SNP Links for Protein (Select 66392227) - SNP

Links from Protein

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Select item 14892569371.

rs1489256937 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:51171581 (GRCh38)
17:49248942 (GRCh37)
Canonical SPDI:: NC_000017.11:51171580:G:
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.51171581del, NC_000017.10:g.49248942del, NM_002512.4:c.436del, NM_002512.3:c.436del, NM_001018136.3:c.781del, NM_001018136.2:c.781del, NM_001018137.3:c.436del, NM_001018137.2:c.436del, NR_037149.2:n.1109del, NR_037149.1:n.1132del, NM_001018139.2:c.436del, NM_001198682.2:c.*74del, NM_001198682.1:c.*74del, NM_001018138.1:c.436del, NP_002503.1:p.Ala146fs, NP_001018146.1:p.Ala261fs, NP_001018147.1:p.Ala146fs, NP_001018149.1:p.Ala146fs, NP_001018148.1:p.Ala146fs

Select item 14867354222.

rs1486735422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:51166900 (GRCh38)
17:49244261 (GRCh37)
Canonical SPDI:: NC_000017.11:51166899:A:G
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.51166900A>G, NC_000017.10:g.49244261A>G, NM_002512.4:c.70A>G, NM_002512.3:c.70A>G, NM_001018136.3:c.415A>G, NM_001018136.2:c.415A>G, NM_001018137.3:c.70A>G, NM_001018137.2:c.70A>G, NR_037149.2:n.743A>G, NR_037149.1:n.766A>G, NM_001018139.2:c.70A>G, NM_001198682.2:c.70A>G, NM_001198682.1:c.70A>G, NM_001018138.1:c.70A>G, NP_002503.1:p.Ile24Val, NP_001018146.1:p.Ile139Val, NP_001018147.1:p.Ile24Val, NP_001018149.1:p.Ile24Val, NP_001185611.1:p.Ile24Val, NP_001018148.1:p.Ile24Val

Select item 14863453303.

rs1486345330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:51171535 (GRCh38)
17:49248896 (GRCh37)
Canonical SPDI:: NC_000017.11:51171534:C:G,NC_000017.11:51171534:C:T
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.51171535C>G, NC_000017.11:g.51171535C>T, NC_000017.10:g.49248896C>G, NC_000017.10:g.49248896C>T, NM_002512.4:c.390C>G, NM_002512.4:c.390C>T, NM_002512.3:c.390C>G, NM_002512.3:c.390C>T, NM_001018136.3:c.735C>G, NM_001018136.3:c.735C>T, NM_001018136.2:c.735C>G, NM_001018136.2:c.735C>T, NM_001018137.3:c.390C>G, NM_001018137.3:c.390C>T, NM_001018137.2:c.390C>G, NM_001018137.2:c.390C>T, NR_037149.2:n.1063C>G, NR_037149.2:n.1063C>T, NR_037149.1:n.1086C>G, NR_037149.1:n.1086C>T, NM_001018139.2:c.390C>G, NM_001018139.2:c.390C>T, NM_001198682.2:c.*28C>G, NM_001198682.2:c.*28C>T, NM_001198682.1:c.*28C>G, NM_001198682.1:c.*28C>T, NM_001018138.1:c.390C>G, NM_001018138.1:c.390C>T, NP_002503.1:p.Ile130Met, NP_001018146.1:p.Ile245Met, NP_001018147.1:p.Ile130Met, NP_001018149.1:p.Ile130Met, NP_001018148.1:p.Ile130Met

Select item 14804685074.

rs1480468507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:51166850 (GRCh38)
17:49244211 (GRCh37)
Canonical SPDI:: NC_000017.11:51166849:C:A
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.51166850C>A, NC_000017.10:g.49244211C>A, NM_002512.4:c.20C>A, NM_002512.3:c.20C>A, NM_001018136.3:c.365C>A, NM_001018136.2:c.365C>A, NM_001018137.3:c.20C>A, NM_001018137.2:c.20C>A, NR_037149.2:n.693C>A, NR_037149.1:n.716C>A, NM_001018139.2:c.20C>A, NM_001198682.2:c.20C>A, NM_001198682.1:c.20C>A, NM_001018138.1:c.20C>A, NP_002503.1:p.Thr7Asn, NP_001018146.1:p.Thr122Asn, NP_001018147.1:p.Thr7Asn, NP_001018149.1:p.Thr7Asn, NP_001185611.1:p.Thr7Asn, NP_001018148.1:p.Thr7Asn

Select item 14775960865.

rs1477596086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:51171508 (GRCh38)
17:49248869 (GRCh37)
Canonical SPDI:: NC_000017.11:51171507:T:C
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.51171508T>C, NC_000017.10:g.49248869T>C, NM_002512.4:c.363T>C, NM_002512.3:c.363T>C, NM_001018136.3:c.708T>C, NM_001018136.2:c.708T>C, NM_001018137.3:c.363T>C, NM_001018137.2:c.363T>C, NR_037149.2:n.1036T>C, NR_037149.1:n.1059T>C, NM_001018139.2:c.363T>C, NM_001198682.2:c.*1T>C, NM_001198682.1:c.*1T>C, NM_001018138.1:c.363T>C

Select item 14713108046.

rs1471310804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:51169991 (GRCh38)
17:49247352 (GRCh37)
Canonical SPDI:: NC_000017.11:51169990:A:G,NC_000017.11:51169990:A:T
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.51169991A>G, NC_000017.11:g.51169991A>T, NC_000017.10:g.49247352A>G, NC_000017.10:g.49247352A>T, NM_002512.4:c.283A>G, NM_002512.4:c.283A>T, NM_002512.3:c.283A>G, NM_002512.3:c.283A>T, NM_001018136.3:c.628A>G, NM_001018136.3:c.628A>T, NM_001018136.2:c.628A>G, NM_001018136.2:c.628A>T, NM_001018137.3:c.283A>G, NM_001018137.3:c.283A>T, NM_001018137.2:c.283A>G, NM_001018137.2:c.283A>T, NR_037149.2:n.956A>G, NR_037149.2:n.956A>T, NR_037149.1:n.979A>G, NR_037149.1:n.979A>T, NM_001018139.2:c.283A>G, NM_001018139.2:c.283A>T, NM_001018138.1:c.283A>G, NM_001018138.1:c.283A>T, NP_002503.1:p.Asn95Asp, NP_002503.1:p.Asn95Tyr, NP_001018146.1:p.Asn210Asp, NP_001018146.1:p.Asn210Tyr, NP_001018147.1:p.Asn95Asp, NP_001018147.1:p.Asn95Tyr, NP_001018149.1:p.Asn95Asp, NP_001018149.1:p.Asn95Tyr, NP_001018148.1:p.Asn95Asp, NP_001018148.1:p.Asn95Tyr

Select item 14658533567.

rs1465853356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:51171592 (GRCh38)
17:49248953 (GRCh37)
Canonical SPDI:: NC_000017.11:51171591:G:C
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
C=0.000684/2 (KOREAN)
C=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.51171592G>C, NC_000017.10:g.49248953G>C, NM_002512.4:c.447G>C, NM_002512.3:c.447G>C, NM_001018136.3:c.792G>C, NM_001018136.2:c.792G>C, NM_001018137.3:c.447G>C, NM_001018137.2:c.447G>C, NR_037149.2:n.1120G>C, NR_037149.1:n.1143G>C, NM_001018139.2:c.447G>C, NM_001198682.2:c.*85G>C, NM_001198682.1:c.*85G>C, NM_001018138.1:c.447G>C, NP_002503.1:p.Trp149Cys, NP_001018146.1:p.Trp264Cys, NP_001018147.1:p.Trp149Cys, NP_001018149.1:p.Trp149Cys, NP_001018148.1:p.Trp149Cys

Select item 14646065498.

rs1464606549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:51168295 (GRCh38)
17:49245656 (GRCh37)
Canonical SPDI:: NC_000017.11:51168294:C:T
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.51168295C>T, NC_000017.10:g.49245656C>T, NM_002512.4:c.180C>T, NM_002512.3:c.180C>T, NM_001018136.3:c.525C>T, NM_001018136.2:c.525C>T, NM_001018137.3:c.180C>T, NM_001018137.2:c.180C>T, NR_037149.2:n.853C>T, NR_037149.1:n.876C>T, NM_001018139.2:c.180C>T, NM_001198682.2:c.180C>T, NM_001198682.1:c.180C>T, NM_001018138.1:c.180C>T

Select item 14613826179.

rs1461382617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:51166915 (GRCh38)
17:49244276 (GRCh37)
Canonical SPDI:: NC_000017.11:51166914:G:A
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.51166915G>A, NC_000017.10:g.49244276G>A, NM_002512.4:c.85G>A, NM_002512.3:c.85G>A, NM_001018136.3:c.430G>A, NM_001018136.2:c.430G>A, NM_001018137.3:c.85G>A, NM_001018137.2:c.85G>A, NR_037149.2:n.758G>A, NR_037149.1:n.781G>A, NM_001018139.2:c.85G>A, NM_001198682.2:c.85G>A, NM_001198682.1:c.85G>A, NM_001018138.1:c.85G>A, NP_002503.1:p.Glu29Lys, NP_001018146.1:p.Glu144Lys, NP_001018147.1:p.Glu29Lys, NP_001018149.1:p.Glu29Lys, NP_001185611.1:p.Glu29Lys, NP_001018148.1:p.Glu29Lys

Select item 145207770510.

rs1452077705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:51166941 (GRCh38)
17:49244302 (GRCh37)
Canonical SPDI:: NC_000017.11:51166940:C:T
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.51166941C>T, NC_000017.10:g.49244302C>T, NM_002512.4:c.111C>T, NM_002512.3:c.111C>T, NM_001018136.3:c.456C>T, NM_001018136.2:c.456C>T, NM_001018137.3:c.111C>T, NM_001018137.2:c.111C>T, NR_037149.2:n.784C>T, NR_037149.1:n.807C>T, NM_001018139.2:c.111C>T, NM_001198682.2:c.111C>T, NM_001198682.1:c.111C>T, NM_001018138.1:c.111C>T

Select item 144992780711.

rs1449927807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:51169982 (GRCh38)
17:49247343 (GRCh37)
Canonical SPDI:: NC_000017.11:51169981:G:A
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.51169982G>A, NC_000017.10:g.49247343G>A, NM_002512.4:c.274G>A, NM_002512.3:c.274G>A, NM_001018136.3:c.619G>A, NM_001018136.2:c.619G>A, NM_001018137.3:c.274G>A, NM_001018137.2:c.274G>A, NR_037149.2:n.947G>A, NR_037149.1:n.970G>A, NM_001018139.2:c.274G>A, NM_001018138.1:c.274G>A, NP_002503.1:p.Gly92Arg, NP_001018146.1:p.Gly207Arg, NP_001018147.1:p.Gly92Arg, NP_001018149.1:p.Gly92Arg, NP_001018148.1:p.Gly92Arg

Select item 144862459712.

rs1448624597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:51166835 (GRCh38)
17:49244196 (GRCh37)
Canonical SPDI:: NC_000017.11:51166834:C:G,NC_000017.11:51166834:C:T
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.51166835C>G, NC_000017.11:g.51166835C>T, NC_000017.10:g.49244196C>G, NC_000017.10:g.49244196C>T, NM_002512.4:c.5C>G, NM_002512.4:c.5C>T, NM_002512.3:c.5C>G, NM_002512.3:c.5C>T, NM_001018136.3:c.350C>G, NM_001018136.3:c.350C>T, NM_001018136.2:c.350C>G, NM_001018136.2:c.350C>T, NM_001018137.3:c.5C>G, NM_001018137.3:c.5C>T, NM_001018137.2:c.5C>G, NM_001018137.2:c.5C>T, NR_037149.2:n.678C>G, NR_037149.2:n.678C>T, NR_037149.1:n.701C>G, NR_037149.1:n.701C>T, NM_001018139.2:c.5C>G, NM_001018139.2:c.5C>T, NM_001198682.2:c.5C>G, NM_001198682.2:c.5C>T, NM_001198682.1:c.5C>G, NM_001198682.1:c.5C>T, NM_001018138.1:c.5C>G, NM_001018138.1:c.5C>T, NP_002503.1:p.Ala2Gly, NP_002503.1:p.Ala2Val, NP_001018146.1:p.Ala117Gly, NP_001018146.1:p.Ala117Val, NP_001018147.1:p.Ala2Gly, NP_001018147.1:p.Ala2Val, NP_001018149.1:p.Ala2Gly, NP_001018149.1:p.Ala2Val, NP_001185611.1:p.Ala2Gly, NP_001185611.1:p.Ala2Val, NP_001018148.1:p.Ala2Gly, NP_001018148.1:p.Ala2Val

Select item 144396526013.

rs1443965260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:51170042 (GRCh38)
17:49247403 (GRCh37)
Canonical SPDI:: NC_000017.11:51170041:G:A
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.51170042G>A, NC_000017.10:g.49247403G>A, NM_002512.4:c.334G>A, NM_002512.3:c.334G>A, NM_001018136.3:c.679G>A, NM_001018136.2:c.679G>A, NM_001018137.3:c.334G>A, NM_001018137.2:c.334G>A, NR_037149.2:n.1007G>A, NR_037149.1:n.1030G>A, NM_001018139.2:c.334G>A, NM_001018138.1:c.334G>A, NP_002503.1:p.Val112Ile, NP_001018146.1:p.Val227Ile, NP_001018147.1:p.Val112Ile, NP_001018149.1:p.Val112Ile, NP_001018148.1:p.Val112Ile

Select item 144056105714.

rs1440561057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:51171491 (GRCh38)
17:49248852 (GRCh37)
Canonical SPDI:: NC_000017.11:51171490:A:G
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000248/4 (TOMMO)
HGVS:: NC_000017.11:g.51171491A>G, NC_000017.10:g.49248852A>G, NM_002512.4:c.346A>G, NM_002512.3:c.346A>G, NM_001018136.3:c.691A>G, NM_001018136.2:c.691A>G, NM_001018137.3:c.346A>G, NM_001018137.2:c.346A>G, NR_037149.2:n.1019A>G, NR_037149.1:n.1042A>G, NM_001018139.2:c.346A>G, NM_001198682.2:c.233A>G, NM_001198682.1:c.233A>G, NM_001018138.1:c.346A>G, NP_002503.1:p.Ile116Val, NP_001018146.1:p.Ile231Val, NP_001018147.1:p.Ile116Val, NP_001018149.1:p.Ile116Val, NP_001185611.1:p.His78Arg, NP_001018148.1:p.Ile116Val

Select item 142221748815.

rs1422217488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:51166847 (GRCh38)
17:49244208 (GRCh37)
Canonical SPDI:: NC_000017.11:51166846:G:A
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.51166847G>A, NC_000017.10:g.49244208G>A, NM_002512.4:c.17G>A, NM_002512.3:c.17G>A, NM_001018136.3:c.362G>A, NM_001018136.2:c.362G>A, NM_001018137.3:c.17G>A, NM_001018137.2:c.17G>A, NR_037149.2:n.690G>A, NR_037149.1:n.713G>A, NM_001018139.2:c.17G>A, NM_001198682.2:c.17G>A, NM_001198682.1:c.17G>A, NM_001018138.1:c.17G>A, NP_002503.1:p.Arg6His, NP_001018146.1:p.Arg121His, NP_001018147.1:p.Arg6His, NP_001018149.1:p.Arg6His, NP_001185611.1:p.Arg6His, NP_001018148.1:p.Arg6His

Select item 141830517916.

rs1418305179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:51169994 (GRCh38)
17:49247355 (GRCh37)
Canonical SPDI:: NC_000017.11:51169993:C:A,NC_000017.11:51169993:C:T
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.51169994C>A, NC_000017.11:g.51169994C>T, NC_000017.10:g.49247355C>A, NC_000017.10:g.49247355C>T, NM_002512.4:c.286C>A, NM_002512.4:c.286C>T, NM_002512.3:c.286C>A, NM_002512.3:c.286C>T, NM_001018136.3:c.631C>A, NM_001018136.3:c.631C>T, NM_001018136.2:c.631C>A, NM_001018136.2:c.631C>T, NM_001018137.3:c.286C>A, NM_001018137.3:c.286C>T, NM_001018137.2:c.286C>A, NM_001018137.2:c.286C>T, NR_037149.2:n.959C>A, NR_037149.2:n.959C>T, NR_037149.1:n.982C>A, NR_037149.1:n.982C>T, NM_001018139.2:c.286C>A, NM_001018139.2:c.286C>T, NM_001018138.1:c.286C>A, NM_001018138.1:c.286C>T, NP_002503.1:p.Pro96Thr, NP_002503.1:p.Pro96Ser, NP_001018146.1:p.Pro211Thr, NP_001018146.1:p.Pro211Ser, NP_001018147.1:p.Pro96Thr, NP_001018147.1:p.Pro96Ser, NP_001018149.1:p.Pro96Thr, NP_001018149.1:p.Pro96Ser, NP_001018148.1:p.Pro96Thr, NP_001018148.1:p.Pro96Ser

Select item 141739401017.

rs1417394010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:51168342 (GRCh38)
17:49245703 (GRCh37)
Canonical SPDI:: NC_000017.11:51168341:T:A
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.51168342T>A, NC_000017.10:g.49245703T>A, NM_002512.4:c.227T>A, NM_002512.3:c.227T>A, NM_001018136.3:c.572T>A, NM_001018136.2:c.572T>A, NM_001018137.3:c.227T>A, NM_001018137.2:c.227T>A, NR_037149.2:n.900T>A, NR_037149.1:n.923T>A, NM_001018139.2:c.227T>A, NM_001198682.2:c.227T>A, NM_001198682.1:c.227T>A, NM_001018138.1:c.227T>A, NP_002503.1:p.Met76Lys, NP_001018146.1:p.Met191Lys, NP_001018147.1:p.Met76Lys, NP_001018149.1:p.Met76Lys, NP_001185611.1:p.Met76Lys, NP_001018148.1:p.Met76Lys

Select item 141673237018.

rs1416732370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:51171588 (GRCh38)
17:49248949 (GRCh37)
Canonical SPDI:: NC_000017.11:51171587:A:C
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.51171588A>C, NC_000017.10:g.49248949A>C, NM_002512.4:c.443A>C, NM_002512.3:c.443A>C, NM_001018136.3:c.788A>C, NM_001018136.2:c.788A>C, NM_001018137.3:c.443A>C, NM_001018137.2:c.443A>C, NR_037149.2:n.1116A>C, NR_037149.1:n.1139A>C, NM_001018139.2:c.443A>C, NM_001198682.2:c.*81A>C, NM_001198682.1:c.*81A>C, NM_001018138.1:c.443A>C, NP_002503.1:p.Asp148Ala, NP_001018146.1:p.Asp263Ala, NP_001018147.1:p.Asp148Ala, NP_001018149.1:p.Asp148Ala, NP_001018148.1:p.Asp148Ala

Select item 140747821319.

rs1407478213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:51169990 (GRCh38)
17:49247351 (GRCh37)
Canonical SPDI:: NC_000017.11:51169989:C:T
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.51169990C>T, NC_000017.10:g.49247351C>T, NM_002512.4:c.282C>T, NM_002512.3:c.282C>T, NM_001018136.3:c.627C>T, NM_001018136.2:c.627C>T, NM_001018137.3:c.282C>T, NM_001018137.2:c.282C>T, NR_037149.2:n.955C>T, NR_037149.1:n.978C>T, NM_001018139.2:c.282C>T, NM_001018138.1:c.282C>T

Select item 140732244120.

rs1407322441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:51166949 (GRCh38)
17:49244310 (GRCh37)
Canonical SPDI:: NC_000017.11:51166948:T:G
Gene:: NME2 (Varview), NME1-NME2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.51166949T>G, NC_000017.10:g.49244310T>G, NM_002512.4:c.119T>G, NM_002512.3:c.119T>G, NM_001018136.3:c.464T>G, NM_001018136.2:c.464T>G, NM_001018137.3:c.119T>G, NM_001018137.2:c.119T>G, NR_037149.2:n.792T>G, NR_037149.1:n.815T>G, NM_001018139.2:c.119T>G, NM_001198682.2:c.119T>G, NM_001198682.1:c.119T>G, NM_001018138.1:c.119T>G, NP_002503.1:p.Phe40Cys, NP_001018146.1:p.Phe155Cys, NP_001018147.1:p.Phe40Cys, NP_001018149.1:p.Phe40Cys, NP_001185611.1:p.Phe40Cys, NP_001018148.1:p.Phe40Cys

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