SNP Links for Protein (Select 214832074) - SNP

Links from Protein

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Select item 14898551961.

rs1489855196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33864661 (GRCh38)
11:33886207 (GRCh37)
Canonical SPDI:: NC_000011.10:33864660:C:T
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.33864661C>T, NC_000011.9:g.33886207C>T, NM_005574.4:c.405G>A, NM_005574.3:c.405G>A, XM_017017733.2:c.198G>A, XM_017017733.1:c.198G>A, NM_001142316.2:c.198G>A, NM_001142316.1:c.198G>A, NM_001142315.2:c.198G>A, NM_001142315.1:c.198G>A, XM_047426944.1:c.405G>A, XM_047426945.1:c.198G>A, XM_047426946.1:c.198G>A

Select item 14888865082.

rs1488886508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33869540 (GRCh38)
11:33891086 (GRCh37)
Canonical SPDI:: NC_000011.10:33869539:C:T
Gene:: LMO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33869540C>T, NC_000011.9:g.33891086C>T, NM_005574.4:c.54G>A, NM_005574.3:c.54G>A, XM_017017733.2:c.-154G>A, XM_017017733.1:c.-154G>A, NM_001142316.2:c.-154G>A, NM_001142316.1:c.-154G>A, NM_001142315.2:c.-154G>A, NM_001142315.1:c.-154G>A, XM_047426944.1:c.54G>A, XM_047426945.1:c.-154G>A, XM_047426946.1:c.-154G>A

Select item 14884459673.

rs1488445967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:33869460 (GRCh38)
11:33891006 (GRCh37)
Canonical SPDI:: NC_000011.10:33869459:C:A,NC_000011.10:33869459:C:G,NC_000011.10:33869459:C:T
Gene:: LMO2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.33869460C>A, NC_000011.10:g.33869460C>G, NC_000011.10:g.33869460C>T, NC_000011.9:g.33891006C>A, NC_000011.9:g.33891006C>G, NC_000011.9:g.33891006C>T, NM_005574.4:c.134G>T, NM_005574.4:c.134G>C, NM_005574.4:c.134G>A, NM_005574.3:c.134G>T, NM_005574.3:c.134G>C, NM_005574.3:c.134G>A, XM_017017733.2:c.-74G>T, XM_017017733.2:c.-74G>C, XM_017017733.2:c.-74G>A, XM_017017733.1:c.-74G>T, XM_017017733.1:c.-74G>C, XM_017017733.1:c.-74G>A, NM_001142316.2:c.-74G>T, NM_001142316.2:c.-74G>C, NM_001142316.2:c.-74G>A, NM_001142316.1:c.-74G>T, NM_001142316.1:c.-74G>C, NM_001142316.1:c.-74G>A, NM_001142315.2:c.-74G>T, NM_001142315.2:c.-74G>C, NM_001142315.2:c.-74G>A, NM_001142315.1:c.-74G>T, NM_001142315.1:c.-74G>C, NM_001142315.1:c.-74G>A, XM_047426944.1:c.134G>T, XM_047426944.1:c.134G>C, XM_047426944.1:c.134G>A, XM_047426945.1:c.-74G>T, XM_047426945.1:c.-74G>C, XM_047426945.1:c.-74G>A, XM_047426946.1:c.-74G>T, XM_047426946.1:c.-74G>C, XM_047426946.1:c.-74G>A, NP_005565.2:p.Arg45Leu, NP_005565.2:p.Arg45Pro, NP_005565.2:p.Arg45Gln, XP_047282900.1:p.Arg45Leu, XP_047282900.1:p.Arg45Pro, XP_047282900.1:p.Arg45Gln

Select item 14812802684.

rs1481280268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33869455 (GRCh38)
11:33891001 (GRCh37)
Canonical SPDI:: NC_000011.10:33869454:G:A
Gene:: LMO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33869455G>A, NC_000011.9:g.33891001G>A, NM_005574.4:c.139C>T, NM_005574.3:c.139C>T, XM_017017733.2:c.-69C>T, XM_017017733.1:c.-69C>T, NM_001142316.2:c.-69C>T, NM_001142316.1:c.-69C>T, NM_001142315.2:c.-69C>T, NM_001142315.1:c.-69C>T, XM_047426944.1:c.139C>T, XM_047426945.1:c.-69C>T, XM_047426946.1:c.-69C>T, NP_005565.2:p.Pro47Ser, XP_047282900.1:p.Pro47Ser

Select item 14785306825.

rs1478530682 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:33869415 (GRCh38)
11:33890961 (GRCh37)
Canonical SPDI:: NC_000011.10:33869414:GGGGG:GGGG
Gene:: LMO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.33869419del, NC_000011.9:g.33890965del, NM_005574.4:c.179del, NM_005574.3:c.179del, XM_017017733.2:c.-29del, XM_017017733.1:c.-29del, NM_001142316.2:c.-29del, NM_001142316.1:c.-29del, NM_001142315.2:c.-29del, NM_001142315.1:c.-29del, XM_047426944.1:c.179del, XM_047426945.1:c.-29del, XM_047426946.1:c.-29del, NP_005565.2:p.Pro60fs, XP_047282900.1:p.Pro60fs

Select item 14780275526.

rs1478027552 has merged into rs780680772 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCCGCCGCCGCCGCCG>-,CCG,CCGCCG,CCGCCGCCG,CCGCCGCCGCCG,CCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCGCCGCCG [Show Flanks]
Chromosome:: 11:33869484 (GRCh38)
11:33891030 (GRCh37)
Canonical SPDI:: NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,5_prime_UTR_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CGCCG=0./0 (ALFA)
-=0./0 (ExAC)
CGCCGC=0.00057/1 (Korea1K)
HGVS:: NC_000011.10:g.33869484_33869501del, NC_000011.10:g.33869484CCG[1], NC_000011.10:g.33869484CCG[2], NC_000011.10:g.33869484CCG[3], NC_000011.10:g.33869484CCG[4], NC_000011.10:g.33869484CCG[5], NC_000011.10:g.33869484CCG[7], NC_000011.10:g.33869484CCG[8], NC_000011.10:g.33869484CCG[9], NC_000011.10:g.33869484CCG[10], NC_000011.9:g.33891030_33891047del, NC_000011.9:g.33891030CCG[1], NC_000011.9:g.33891030CCG[2], NC_000011.9:g.33891030CCG[3], NC_000011.9:g.33891030CCG[4], NC_000011.9:g.33891030CCG[5], NC_000011.9:g.33891030CCG[7], NC_000011.9:g.33891030CCG[8], NC_000011.9:g.33891030CCG[9], NC_000011.9:g.33891030CCG[10], NM_005574.4:c.95_112del, NM_005574.4:c.95GCG[1], NM_005574.4:c.95GCG[2], NM_005574.4:c.95GCG[3], NM_005574.4:c.95GCG[4], NM_005574.4:c.95GCG[5], NM_005574.4:c.95GCG[7], NM_005574.4:c.95GCG[8], NM_005574.4:c.95GCG[9], NM_005574.4:c.95GCG[10], NM_005574.3:c.95_112del, NM_005574.3:c.95GCG[1], NM_005574.3:c.95GCG[2], NM_005574.3:c.95GCG[3], NM_005574.3:c.95GCG[4], NM_005574.3:c.95GCG[5], NM_005574.3:c.95GCG[7], NM_005574.3:c.95GCG[8], NM_005574.3:c.95GCG[9], NM_005574.3:c.95GCG[10], XM_017017733.2:c.-113_-96del, XM_017017733.2:c.-113GCG[1], XM_017017733.2:c.-113GCG[2], XM_017017733.2:c.-113GCG[3], XM_017017733.2:c.-113GCG[4], XM_017017733.2:c.-113GCG[5], XM_017017733.2:c.-113GCG[7], XM_017017733.2:c.-113GCG[8], XM_017017733.2:c.-113GCG[9], XM_017017733.2:c.-113GCG[10], XM_017017733.1:c.-113_-96del, XM_017017733.1:c.-113GCG[1], XM_017017733.1:c.-113GCG[2], XM_017017733.1:c.-113GCG[3], XM_017017733.1:c.-113GCG[4], XM_017017733.1:c.-113GCG[5], XM_017017733.1:c.-113GCG[7], XM_017017733.1:c.-113GCG[8], XM_017017733.1:c.-113GCG[9], XM_017017733.1:c.-113GCG[10], NM_001142316.2:c.-113_-96del, NM_001142316.2:c.-113GCG[1], NM_001142316.2:c.-113GCG[2], NM_001142316.2:c.-113GCG[3], NM_001142316.2:c.-113GCG[4], NM_001142316.2:c.-113GCG[5], NM_001142316.2:c.-113GCG[7], NM_001142316.2:c.-113GCG[8], NM_001142316.2:c.-113GCG[9], NM_001142316.2:c.-113GCG[10], NM_001142316.1:c.-113_-96del, NM_001142316.1:c.-113GCG[1], NM_001142316.1:c.-113GCG[2], NM_001142316.1:c.-113GCG[3], NM_001142316.1:c.-113GCG[4], NM_001142316.1:c.-113GCG[5], NM_001142316.1:c.-113GCG[7], NM_001142316.1:c.-113GCG[8], NM_001142316.1:c.-113GCG[9], NM_001142316.1:c.-113GCG[10], NM_001142315.2:c.-113_-96del, NM_001142315.2:c.-113GCG[1], NM_001142315.2:c.-113GCG[2], NM_001142315.2:c.-113GCG[3], NM_001142315.2:c.-113GCG[4], NM_001142315.2:c.-113GCG[5], NM_001142315.2:c.-113GCG[7], NM_001142315.2:c.-113GCG[8], NM_001142315.2:c.-113GCG[9], NM_001142315.2:c.-113GCG[10], NM_001142315.1:c.-113_-96del, NM_001142315.1:c.-113GCG[1], NM_001142315.1:c.-113GCG[2], NM_001142315.1:c.-113GCG[3], NM_001142315.1:c.-113GCG[4], NM_001142315.1:c.-113GCG[5], NM_001142315.1:c.-113GCG[7], NM_001142315.1:c.-113GCG[8], NM_001142315.1:c.-113GCG[9], NM_001142315.1:c.-113GCG[10], XM_047426944.1:c.95_112del, XM_047426944.1:c.95GCG[1], XM_047426944.1:c.95GCG[2], XM_047426944.1:c.95GCG[3], XM_047426944.1:c.95GCG[4], XM_047426944.1:c.95GCG[5], XM_047426944.1:c.95GCG[7], XM_047426944.1:c.95GCG[8], XM_047426944.1:c.95GCG[9], XM_047426944.1:c.95GCG[10], XM_047426945.1:c.-113_-96del, XM_047426945.1:c.-113GCG[1], XM_047426945.1:c.-113GCG[2], XM_047426945.1:c.-113GCG[3], XM_047426945.1:c.-113GCG[4], XM_047426945.1:c.-113GCG[5], XM_047426945.1:c.-113GCG[7], XM_047426945.1:c.-113GCG[8], XM_047426945.1:c.-113GCG[9], XM_047426945.1:c.-113GCG[10], XM_047426946.1:c.-113_-96del, XM_047426946.1:c.-113GCG[1], XM_047426946.1:c.-113GCG[2], XM_047426946.1:c.-113GCG[3], XM_047426946.1:c.-113GCG[4], XM_047426946.1:c.-113GCG[5], XM_047426946.1:c.-113GCG[7], XM_047426946.1:c.-113GCG[8], XM_047426946.1:c.-113GCG[9], XM_047426946.1:c.-113GCG[10], NP_005565.2:p.Gly32_Gly37del, NP_005565.2:p.Gly33_Gly37del, NP_005565.2:p.Gly34_Gly37del, NP_005565.2:p.Gly35_Gly37del, NP_005565.2:p.Gly36_Gly37del, NP_005565.2:p.Gly37del, NP_005565.2:p.Gly37dup, NP_005565.2:p.Gly36_Gly37dup, NP_005565.2:p.Gly35_Gly37dup, NP_005565.2:p.Gly34_Gly37dup, XP_047282900.1:p.Gly32_Gly37del, XP_047282900.1:p.Gly33_Gly37del, XP_047282900.1:p.Gly34_Gly37del, XP_047282900.1:p.Gly35_Gly37del, XP_047282900.1:p.Gly36_Gly37del, XP_047282900.1:p.Gly37del, XP_047282900.1:p.Gly37dup, XP_047282900.1:p.Gly36_Gly37dup, XP_047282900.1:p.Gly35_Gly37dup, XP_047282900.1:p.Gly34_Gly37dup

Select item 14753629227.

rs1475362922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:33864673 (GRCh38)
11:33886219 (GRCh37)
Canonical SPDI:: NC_000011.10:33864672:G:A,NC_000011.10:33864672:G:C,NC_000011.10:33864672:G:T
Gene:: LMO2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.33864673G>A, NC_000011.10:g.33864673G>C, NC_000011.10:g.33864673G>T, NC_000011.9:g.33886219G>A, NC_000011.9:g.33886219G>C, NC_000011.9:g.33886219G>T, NM_005574.4:c.393C>T, NM_005574.4:c.393C>G, NM_005574.4:c.393C>A, NM_005574.3:c.393C>T, NM_005574.3:c.393C>G, NM_005574.3:c.393C>A, XM_017017733.2:c.186C>T, XM_017017733.2:c.186C>G, XM_017017733.2:c.186C>A, XM_017017733.1:c.186C>T, XM_017017733.1:c.186C>G, XM_017017733.1:c.186C>A, NM_001142316.2:c.186C>T, NM_001142316.2:c.186C>G, NM_001142316.2:c.186C>A, NM_001142316.1:c.186C>T, NM_001142316.1:c.186C>G, NM_001142316.1:c.186C>A, NM_001142315.2:c.186C>T, NM_001142315.2:c.186C>G, NM_001142315.2:c.186C>A, NM_001142315.1:c.186C>T, NM_001142315.1:c.186C>G, NM_001142315.1:c.186C>A, XM_047426944.1:c.393C>T, XM_047426944.1:c.393C>G, XM_047426944.1:c.393C>A, XM_047426945.1:c.186C>T, XM_047426945.1:c.186C>G, XM_047426945.1:c.186C>A, XM_047426946.1:c.186C>T, XM_047426946.1:c.186C>G, XM_047426946.1:c.186C>A, NP_005565.2:p.Cys131Trp, NP_005565.2:p.Cys131Ter, XP_016873222.1:p.Cys62Trp, XP_016873222.1:p.Cys62Ter, NP_001135788.1:p.Cys62Trp, NP_001135788.1:p.Cys62Ter, NP_001135787.1:p.Cys62Trp, NP_001135787.1:p.Cys62Ter, XP_047282900.1:p.Cys131Trp, XP_047282900.1:p.Cys131Ter, XP_047282901.1:p.Cys62Trp, XP_047282901.1:p.Cys62Ter, XP_047282902.1:p.Cys62Trp, XP_047282902.1:p.Cys62Ter

Select item 14735156918.

rs1473515691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33864612 (GRCh38)
11:33886158 (GRCh37)
Canonical SPDI:: NC_000011.10:33864611:C:T
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33864612C>T, NC_000011.9:g.33886158C>T, NM_005574.4:c.454G>A, NM_005574.3:c.454G>A, XM_017017733.2:c.247G>A, XM_017017733.1:c.247G>A, NM_001142316.2:c.247G>A, NM_001142316.1:c.247G>A, NM_001142315.2:c.247G>A, NM_001142315.1:c.247G>A, XM_047426944.1:c.454G>A, XM_047426945.1:c.247G>A, XM_047426946.1:c.247G>A, NP_005565.2:p.Asp152Asn, XP_016873222.1:p.Asp83Asn, NP_001135788.1:p.Asp83Asn, NP_001135787.1:p.Asp83Asn, XP_047282900.1:p.Asp152Asn, XP_047282901.1:p.Asp83Asn, XP_047282902.1:p.Asp83Asn

Select item 14732884449.

rs1473288444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:33864764 (GRCh38)
11:33886310 (GRCh37)
Canonical SPDI:: NC_000011.10:33864763:C:G
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.33864764C>G, NC_000011.9:g.33886310C>G, NM_005574.4:c.302G>C, NM_005574.3:c.302G>C, XM_017017733.2:c.95G>C, XM_017017733.1:c.95G>C, NM_001142316.2:c.95G>C, NM_001142316.1:c.95G>C, NM_001142315.2:c.95G>C, NM_001142315.1:c.95G>C, XM_047426944.1:c.302G>C, XM_047426945.1:c.95G>C, XM_047426946.1:c.95G>C, NP_005565.2:p.Gly101Ala, XP_016873222.1:p.Gly32Ala, NP_001135788.1:p.Gly32Ala, NP_001135787.1:p.Gly32Ala, XP_047282900.1:p.Gly101Ala, XP_047282901.1:p.Gly32Ala, XP_047282902.1:p.Gly32Ala

Select item 147095349010.

rs1470953490 has merged into rs780680772 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCCGCCGCCGCCGCCG>-,CCG,CCGCCG,CCGCCGCCG,CCGCCGCCGCCG,CCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCGCCGCCG [Show Flanks]
Chromosome:: 11:33869484 (GRCh38)
11:33891030 (GRCh37)
Canonical SPDI:: NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCGCCGCCGCCGCCG,NC_000011.10:33869481:CGCCGCCGCCGCCGCCGCCG:CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,5_prime_UTR_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CGCCG=0./0 (ALFA)
-=0./0 (ExAC)
CGCCGC=0.00057/1 (Korea1K)
HGVS:: NC_000011.10:g.33869484_33869501del, NC_000011.10:g.33869484CCG[1], NC_000011.10:g.33869484CCG[2], NC_000011.10:g.33869484CCG[3], NC_000011.10:g.33869484CCG[4], NC_000011.10:g.33869484CCG[5], NC_000011.10:g.33869484CCG[7], NC_000011.10:g.33869484CCG[8], NC_000011.10:g.33869484CCG[9], NC_000011.10:g.33869484CCG[10], NC_000011.9:g.33891030_33891047del, NC_000011.9:g.33891030CCG[1], NC_000011.9:g.33891030CCG[2], NC_000011.9:g.33891030CCG[3], NC_000011.9:g.33891030CCG[4], NC_000011.9:g.33891030CCG[5], NC_000011.9:g.33891030CCG[7], NC_000011.9:g.33891030CCG[8], NC_000011.9:g.33891030CCG[9], NC_000011.9:g.33891030CCG[10], NM_005574.4:c.95_112del, NM_005574.4:c.95GCG[1], NM_005574.4:c.95GCG[2], NM_005574.4:c.95GCG[3], NM_005574.4:c.95GCG[4], NM_005574.4:c.95GCG[5], NM_005574.4:c.95GCG[7], NM_005574.4:c.95GCG[8], NM_005574.4:c.95GCG[9], NM_005574.4:c.95GCG[10], NM_005574.3:c.95_112del, NM_005574.3:c.95GCG[1], NM_005574.3:c.95GCG[2], NM_005574.3:c.95GCG[3], NM_005574.3:c.95GCG[4], NM_005574.3:c.95GCG[5], NM_005574.3:c.95GCG[7], NM_005574.3:c.95GCG[8], NM_005574.3:c.95GCG[9], NM_005574.3:c.95GCG[10], XM_017017733.2:c.-113_-96del, XM_017017733.2:c.-113GCG[1], XM_017017733.2:c.-113GCG[2], XM_017017733.2:c.-113GCG[3], XM_017017733.2:c.-113GCG[4], XM_017017733.2:c.-113GCG[5], XM_017017733.2:c.-113GCG[7], XM_017017733.2:c.-113GCG[8], XM_017017733.2:c.-113GCG[9], XM_017017733.2:c.-113GCG[10], XM_017017733.1:c.-113_-96del, XM_017017733.1:c.-113GCG[1], XM_017017733.1:c.-113GCG[2], XM_017017733.1:c.-113GCG[3], XM_017017733.1:c.-113GCG[4], XM_017017733.1:c.-113GCG[5], XM_017017733.1:c.-113GCG[7], XM_017017733.1:c.-113GCG[8], XM_017017733.1:c.-113GCG[9], XM_017017733.1:c.-113GCG[10], NM_001142316.2:c.-113_-96del, NM_001142316.2:c.-113GCG[1], NM_001142316.2:c.-113GCG[2], NM_001142316.2:c.-113GCG[3], NM_001142316.2:c.-113GCG[4], NM_001142316.2:c.-113GCG[5], NM_001142316.2:c.-113GCG[7], NM_001142316.2:c.-113GCG[8], NM_001142316.2:c.-113GCG[9], NM_001142316.2:c.-113GCG[10], NM_001142316.1:c.-113_-96del, NM_001142316.1:c.-113GCG[1], NM_001142316.1:c.-113GCG[2], NM_001142316.1:c.-113GCG[3], NM_001142316.1:c.-113GCG[4], NM_001142316.1:c.-113GCG[5], NM_001142316.1:c.-113GCG[7], NM_001142316.1:c.-113GCG[8], NM_001142316.1:c.-113GCG[9], NM_001142316.1:c.-113GCG[10], NM_001142315.2:c.-113_-96del, NM_001142315.2:c.-113GCG[1], NM_001142315.2:c.-113GCG[2], NM_001142315.2:c.-113GCG[3], NM_001142315.2:c.-113GCG[4], NM_001142315.2:c.-113GCG[5], NM_001142315.2:c.-113GCG[7], NM_001142315.2:c.-113GCG[8], NM_001142315.2:c.-113GCG[9], NM_001142315.2:c.-113GCG[10], NM_001142315.1:c.-113_-96del, NM_001142315.1:c.-113GCG[1], NM_001142315.1:c.-113GCG[2], NM_001142315.1:c.-113GCG[3], NM_001142315.1:c.-113GCG[4], NM_001142315.1:c.-113GCG[5], NM_001142315.1:c.-113GCG[7], NM_001142315.1:c.-113GCG[8], NM_001142315.1:c.-113GCG[9], NM_001142315.1:c.-113GCG[10], XM_047426944.1:c.95_112del, XM_047426944.1:c.95GCG[1], XM_047426944.1:c.95GCG[2], XM_047426944.1:c.95GCG[3], XM_047426944.1:c.95GCG[4], XM_047426944.1:c.95GCG[5], XM_047426944.1:c.95GCG[7], XM_047426944.1:c.95GCG[8], XM_047426944.1:c.95GCG[9], XM_047426944.1:c.95GCG[10], XM_047426945.1:c.-113_-96del, XM_047426945.1:c.-113GCG[1], XM_047426945.1:c.-113GCG[2], XM_047426945.1:c.-113GCG[3], XM_047426945.1:c.-113GCG[4], XM_047426945.1:c.-113GCG[5], XM_047426945.1:c.-113GCG[7], XM_047426945.1:c.-113GCG[8], XM_047426945.1:c.-113GCG[9], XM_047426945.1:c.-113GCG[10], XM_047426946.1:c.-113_-96del, XM_047426946.1:c.-113GCG[1], XM_047426946.1:c.-113GCG[2], XM_047426946.1:c.-113GCG[3], XM_047426946.1:c.-113GCG[4], XM_047426946.1:c.-113GCG[5], XM_047426946.1:c.-113GCG[7], XM_047426946.1:c.-113GCG[8], XM_047426946.1:c.-113GCG[9], XM_047426946.1:c.-113GCG[10], NP_005565.2:p.Gly32_Gly37del, NP_005565.2:p.Gly33_Gly37del, NP_005565.2:p.Gly34_Gly37del, NP_005565.2:p.Gly35_Gly37del, NP_005565.2:p.Gly36_Gly37del, NP_005565.2:p.Gly37del, NP_005565.2:p.Gly37dup, NP_005565.2:p.Gly36_Gly37dup, NP_005565.2:p.Gly35_Gly37dup, NP_005565.2:p.Gly34_Gly37dup, XP_047282900.1:p.Gly32_Gly37del, XP_047282900.1:p.Gly33_Gly37del, XP_047282900.1:p.Gly34_Gly37del, XP_047282900.1:p.Gly35_Gly37del, XP_047282900.1:p.Gly36_Gly37del, XP_047282900.1:p.Gly37del, XP_047282900.1:p.Gly37dup, XP_047282900.1:p.Gly36_Gly37dup, XP_047282900.1:p.Gly35_Gly37dup, XP_047282900.1:p.Gly34_Gly37dup

Select item 146651694911.

rs1466516949 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:33864732 (GRCh38)
11:33886278 (GRCh37)
Canonical SPDI:: NC_000011.10:33864731:GG:G
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33864733del, NC_000011.9:g.33886279del, NM_005574.4:c.334del, NM_005574.3:c.334del, XM_017017733.2:c.127del, XM_017017733.1:c.127del, NM_001142316.2:c.127del, NM_001142316.1:c.127del, NM_001142315.2:c.127del, NM_001142315.1:c.127del, XM_047426944.1:c.334del, XM_047426945.1:c.127del, XM_047426946.1:c.127del, NP_005565.2:p.Phe111_Leu112insTer, XP_016873222.1:p.Phe42_Leu43insTer, NP_001135788.1:p.Phe42_Leu43insTer, NP_001135787.1:p.Phe42_Leu43insTer, XP_047282900.1:p.Phe111_Leu112insTer, XP_047282901.1:p.Phe42_Leu43insTer, XP_047282902.1:p.Phe42_Leu43insTer

Select item 146535843112.

rs1465358431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:33864627 (GRCh38)
11:33886173 (GRCh37)
Canonical SPDI:: NC_000011.10:33864626:T:A
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.33864627T>A, NC_000011.9:g.33886173T>A, NM_005574.4:c.439A>T, NM_005574.3:c.439A>T, XM_017017733.2:c.232A>T, XM_017017733.1:c.232A>T, NM_001142316.2:c.232A>T, NM_001142316.1:c.232A>T, NM_001142315.2:c.232A>T, NM_001142315.1:c.232A>T, XM_047426944.1:c.439A>T, XM_047426945.1:c.232A>T, XM_047426946.1:c.232A>T, NP_005565.2:p.Lys147Ter, XP_016873222.1:p.Lys78Ter, NP_001135788.1:p.Lys78Ter, NP_001135787.1:p.Lys78Ter, XP_047282900.1:p.Lys147Ter, XP_047282901.1:p.Lys78Ter, XP_047282902.1:p.Lys78Ter

Select item 146530710313.

rs1465307103 has merged into rs1237590617 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCCGTCGCCGCCGC>-,CGCCGTCGCCGCCGCCGCCGTCGCCGCCGC [Show Flanks]
Chromosome:: 11:33869497 (GRCh38)
11:33891043 (GRCh37)
Canonical SPDI:: NC_000011.10:33869487:CGCCGCCGCCGCCGTCGCCGCCGC:CGCCGCCGC,NC_000011.10:33869487:CGCCGCCGCCGCCGTCGCCGCCGC:CGCCGCCGCCGCCGTCGCCGCCGCCGCCGTCGCCGCCGC
Gene:: LMO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,inframe_deletion,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CGCCGCCGCCGCCGTCGCCGCCGCCGCCGTCGCCGCCGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33869497_33869511del, NC_000011.10:g.33869497_33869511dup, NC_000011.9:g.33891043_33891057del, NC_000011.9:g.33891043_33891057dup, NM_005574.4:c.92_106del, NM_005574.4:c.92_106dup, NM_005574.3:c.92_106del, NM_005574.3:c.92_106dup, XM_017017733.2:c.-116_-102del, XM_017017733.2:c.-116_-102dup, XM_017017733.1:c.-116_-102del, XM_017017733.1:c.-116_-102dup, NM_001142316.2:c.-116_-102del, NM_001142316.2:c.-116_-102dup, NM_001142316.1:c.-116_-102del, NM_001142316.1:c.-116_-102dup, NM_001142315.2:c.-116_-102del, NM_001142315.2:c.-116_-102dup, NM_001142315.1:c.-116_-102del, NM_001142315.1:c.-116_-102dup, XM_047426944.1:c.92_106del, XM_047426944.1:c.92_106dup, XM_047426945.1:c.-116_-102del, XM_047426945.1:c.-116_-102dup, XM_047426946.1:c.-116_-102del, XM_047426946.1:c.-116_-102dup, NP_005565.2:p.Asp31_Gly35del, NP_005565.2:p.Asp31_Gly35dup, XP_047282900.1:p.Asp31_Gly35del, XP_047282900.1:p.Asp31_Gly35dup

Select item 146042038914.

rs1460420389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:33869491 (GRCh38)
11:33891037 (GRCh37)
Canonical SPDI:: NC_000011.10:33869490:C:A
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000011.10:g.33869491C>A, NC_000011.9:g.33891037C>A, NM_005574.4:c.103G>T, NM_005574.3:c.103G>T, XM_017017733.2:c.-105G>T, XM_017017733.1:c.-105G>T, NM_001142316.2:c.-105G>T, NM_001142316.1:c.-105G>T, NM_001142315.2:c.-105G>T, NM_001142315.1:c.-105G>T, XM_047426944.1:c.103G>T, XM_047426945.1:c.-105G>T, XM_047426946.1:c.-105G>T, NP_005565.2:p.Gly35Cys, XP_047282900.1:p.Gly35Cys

Select item 145710590815.

rs1457105908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:33869361 (GRCh38)
11:33890907 (GRCh37)
Canonical SPDI:: NC_000011.10:33869360:C:A,NC_000011.10:33869360:C:T
Gene:: LMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33869361C>A, NC_000011.10:g.33869361C>T, NC_000011.9:g.33890907C>A, NC_000011.9:g.33890907C>T, NM_005574.4:c.233G>T, NM_005574.4:c.233G>A, NM_005574.3:c.233G>T, NM_005574.3:c.233G>A, XM_017017733.2:c.26G>T, XM_017017733.2:c.26G>A, XM_017017733.1:c.26G>T, XM_017017733.1:c.26G>A, NM_001142316.2:c.26G>T, NM_001142316.2:c.26G>A, NM_001142316.1:c.26G>T, NM_001142316.1:c.26G>A, NM_001142315.2:c.26G>T, NM_001142315.2:c.26G>A, NM_001142315.1:c.26G>T, NM_001142315.1:c.26G>A, XM_047426944.1:c.233G>T, XM_047426944.1:c.233G>A, XM_047426945.1:c.26G>T, XM_047426945.1:c.26G>A, XM_047426946.1:c.26G>T, XM_047426946.1:c.26G>A, NP_005565.2:p.Ser78Ile, NP_005565.2:p.Ser78Asn, XP_016873222.1:p.Ser9Ile, XP_016873222.1:p.Ser9Asn, NP_001135788.1:p.Ser9Ile, NP_001135788.1:p.Ser9Asn, NP_001135787.1:p.Ser9Ile, NP_001135787.1:p.Ser9Asn, XP_047282900.1:p.Ser78Ile, XP_047282900.1:p.Ser78Asn, XP_047282901.1:p.Ser9Ile, XP_047282901.1:p.Ser9Asn, XP_047282902.1:p.Ser9Ile, XP_047282902.1:p.Ser9Asn

Select item 145113888516.

rs1451138885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33869511 (GRCh38)
11:33891057 (GRCh37)
Canonical SPDI:: NC_000011.10:33869510:C:T
Gene:: LMO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33869511C>T, NC_000011.9:g.33891057C>T, NM_005574.4:c.83G>A, NM_005574.3:c.83G>A, XM_017017733.2:c.-125G>A, XM_017017733.1:c.-125G>A, NM_001142316.2:c.-125G>A, NM_001142316.1:c.-125G>A, NM_001142315.2:c.-125G>A, NM_001142315.1:c.-125G>A, XM_047426944.1:c.83G>A, XM_047426945.1:c.-125G>A, XM_047426946.1:c.-125G>A, NP_005565.2:p.Ser28Asn, XP_047282900.1:p.Ser28Asn

Select item 145056039317.

rs1450560393 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCCGC [Show Flanks]
Chromosome:: 11:33869502 (GRCh38)
11:33891049 (GRCh37)
Canonical SPDI:: NC_000011.10:33869502:CGCCGCCGC:CGCCGCCGCCGCCGC
Gene:: LMO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCCGCCGCCGCCGC=0./0 (ALFA)
CGCCGC=0.000007/1 (GnomAD)
CGCCGC=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.33869503CGC[5], NC_000011.9:g.33891049CGC[5], NM_005574.4:c.83GCG[5], NM_005574.3:c.83GCG[5], XM_017017733.2:c.-125GCG[5], XM_017017733.1:c.-125GCG[5], NM_001142316.2:c.-125GCG[5], NM_001142316.1:c.-125GCG[5], NM_001142315.2:c.-125GCG[5], NM_001142315.1:c.-125GCG[5], XM_047426944.1:c.83GCG[5], XM_047426945.1:c.-125GCG[5], XM_047426946.1:c.-125GCG[5], NP_005565.2:p.Gly29_Gly30dup, XP_047282900.1:p.Gly29_Gly30dup

Select item 144594996618.

rs1445949966 [Homo sapiens]

Variant type:: DEL
Alleles:: CCCCTCGGGT>- [Show Flanks]
Chromosome:: 11:33869465 (GRCh38)
11:33891011 (GRCh37)
Canonical SPDI:: NC_000011.10:33869464:CCCCTCGGGT:
Gene:: LMO2 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.33869465_33869474del, NC_000011.9:g.33891011_33891020del, NM_005574.4:c.120_129del, NM_005574.3:c.120_129del, XM_017017733.2:c.-88_-79del, XM_017017733.1:c.-88_-79del, NM_001142316.2:c.-88_-79del, NM_001142316.1:c.-88_-79del, NM_001142315.2:c.-88_-79del, NM_001142315.1:c.-88_-79del, XM_047426944.1:c.120_129del, XM_047426945.1:c.-88_-79del, XM_047426946.1:c.-88_-79del, NP_005565.2:p.Pro41fs, XP_047282900.1:p.Pro41fs

Select item 144471216519.

rs1444712165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:33864763 (GRCh38)
11:33886309 (GRCh37)
Canonical SPDI:: NC_000011.10:33864762:G:C,NC_000011.10:33864762:G:T
Gene:: LMO2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.33864763G>C, NC_000011.10:g.33864763G>T, NC_000011.9:g.33886309G>C, NC_000011.9:g.33886309G>T, NM_005574.4:c.303C>G, NM_005574.4:c.303C>A, NM_005574.3:c.303C>G, NM_005574.3:c.303C>A, XM_017017733.2:c.96C>G, XM_017017733.2:c.96C>A, XM_017017733.1:c.96C>G, XM_017017733.1:c.96C>A, NM_001142316.2:c.96C>G, NM_001142316.2:c.96C>A, NM_001142316.1:c.96C>G, NM_001142316.1:c.96C>A, NM_001142315.2:c.96C>G, NM_001142315.2:c.96C>A, NM_001142315.1:c.96C>G, NM_001142315.1:c.96C>A, XM_047426944.1:c.303C>G, XM_047426944.1:c.303C>A, XM_047426945.1:c.96C>G, XM_047426945.1:c.96C>A, XM_047426946.1:c.96C>G, XM_047426946.1:c.96C>A

Select item 144379748120.

rs1443797481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:33869573 (GRCh38)
11:33891119 (GRCh37)
Canonical SPDI:: NC_000011.10:33869572:A:T
Gene:: LMO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.33869573A>T, NC_000011.9:g.33891119A>T, NM_005574.4:c.21T>A, NM_005574.3:c.21T>A, XM_017017733.2:c.-187T>A, XM_017017733.1:c.-187T>A, NM_001142316.2:c.-187T>A, NM_001142316.1:c.-187T>A, NM_001142315.2:c.-187T>A, NM_001142315.1:c.-187T>A, XM_047426944.1:c.21T>A, XM_047426945.1:c.-187T>A, XM_047426946.1:c.-187T>A

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