SNP Links for Protein (Select 556503399) - SNP

Links from Protein

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Select item 14853750701.

rs1485375070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:11276130 (GRCh38)
16:11369987 (GRCh37)
Canonical SPDI:: NC_000016.10:11276129:A:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11276130A>T, NC_000016.9:g.11369987A>T, NM_002762.4:c.241T>A, NM_002762.3:c.241T>A, NM_002762.2:c.241T>A, NM_001286359.2:c.241T>A, NM_001286359.1:c.241T>A, NM_001286356.2:c.241T>A, NM_001286356.1:c.241T>A, NM_001286358.2:c.241T>A, NM_001286358.1:c.241T>A, NR_104428.2:n.351T>A, NR_104428.1:n.351T>A, NP_002753.2:p.Ser81Thr, NP_001273288.1:p.Ser81Thr, NP_001273285.1:p.Ser81Thr, NP_001273287.1:p.Ser81Thr

Select item 14822703822.

rs1482270382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11275844 (GRCh38)
16:11369701 (GRCh37)
Canonical SPDI:: NC_000016.10:11275843:G:A
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,stop_gained,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00006/1 (TOMMO)
HGVS:: NC_000016.10:g.11275844G>A, NC_000016.9:g.11369701G>A, NM_002762.4:c.*56C>T, NM_002762.3:c.*56C>T, NM_002762.2:c.*56C>T, NM_001286359.2:c.*103C>T, NM_001286359.1:c.*103C>T, NM_001286356.2:c.409C>T, NM_001286356.1:c.409C>T, NM_001286358.2:c.358C>T, NM_001286358.1:c.358C>T, NM_001286357.2:c.*56C>T, NM_001286357.1:c.*56C>T, NR_104428.2:n.475C>T, NR_104428.1:n.475C>T, NP_001273285.1:p.Gln137Ter, NP_001273287.1:p.Gln120Ter

Select item 14811700953.

rs1481170095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11276247 (GRCh38)
16:11370104 (GRCh37)
Canonical SPDI:: NC_000016.10:11276246:C:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.11276247C>T, NC_000016.9:g.11370104C>T, NM_002762.4:c.124G>A, NM_002762.3:c.124G>A, NM_002762.2:c.124G>A, NM_001286359.2:c.124G>A, NM_001286359.1:c.124G>A, NM_001286356.2:c.124G>A, NM_001286356.1:c.124G>A, NM_001286358.2:c.124G>A, NM_001286358.1:c.124G>A, NM_001286357.2:c.124G>A, NM_001286357.1:c.124G>A, NR_104428.2:n.234G>A, NR_104428.1:n.234G>A, NP_002753.2:p.Glu42Lys, NP_001273288.1:p.Glu42Lys, NP_001273285.1:p.Glu42Lys, NP_001273287.1:p.Glu42Lys, NP_001273286.1:p.Glu42Lys

Select item 14768847504.

rs1476884750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11276303 (GRCh38)
16:11370160 (GRCh37)
Canonical SPDI:: NC_000016.10:11276302:C:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.11276303C>T, NC_000016.9:g.11370160C>T, NM_002762.4:c.68G>A, NM_002762.3:c.68G>A, NM_002762.2:c.68G>A, NM_001286359.2:c.68G>A, NM_001286359.1:c.68G>A, NM_001286356.2:c.68G>A, NM_001286356.1:c.68G>A, NM_001286358.2:c.68G>A, NM_001286358.1:c.68G>A, NM_001286357.2:c.68G>A, NM_001286357.1:c.68G>A, NR_104428.2:n.178G>A, NR_104428.1:n.178G>A, NP_002753.2:p.Gly23Glu, NP_001273288.1:p.Gly23Glu, NP_001273285.1:p.Gly23Glu, NP_001273287.1:p.Gly23Glu, NP_001273286.1:p.Gly23Glu

Select item 14764379435.

rs1476437943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11275836 (GRCh38)
16:11369693 (GRCh37)
Canonical SPDI:: NC_000016.10:11275835:C:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,splice_donor_variant,intron_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11275836C>T, NC_000016.9:g.11369693C>T, NM_002762.4:c.*64G>A, NM_002762.3:c.*64G>A, NM_002762.2:c.*64G>A, NM_001286359.2:c.*111G>A, NM_001286359.1:c.*111G>A, NM_001286356.2:c.417G>A, NM_001286356.1:c.417G>A, NM_001286358.2:c.366G>A, NM_001286358.1:c.366G>A, NM_001286357.2:c.*64G>A, NM_001286357.1:c.*64G>A

Select item 14536847536.

rs1453684753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11275890 (GRCh38)
16:11369747 (GRCh37)
Canonical SPDI:: NC_000016.10:11275889:C:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11275890C>T, NC_000016.9:g.11369747C>T, NM_002762.4:c.*10G>A, NM_002762.3:c.*10G>A, NM_002762.2:c.*10G>A, NM_001286359.2:c.*57G>A, NM_001286359.1:c.*57G>A, NM_001286356.2:c.363G>A, NM_001286356.1:c.363G>A, NM_001286358.2:c.312G>A, NM_001286358.1:c.312G>A, NM_001286357.2:c.*10G>A, NM_001286357.1:c.*10G>A, NR_104428.2:n.429G>A, NR_104428.1:n.429G>A

Select item 14535751157.

rs1453575115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:11276358 (GRCh38)
16:11370215 (GRCh37)
Canonical SPDI:: NC_000016.10:11276357:G:A,NC_000016.10:11276357:G:C
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.11276358G>A, NC_000016.10:g.11276358G>C, NC_000016.9:g.11370215G>A, NC_000016.9:g.11370215G>C, NM_002762.4:c.13C>T, NM_002762.4:c.13C>G, NM_002762.3:c.13C>T, NM_002762.3:c.13C>G, NM_002762.2:c.13C>T, NM_002762.2:c.13C>G, NM_001286359.2:c.13C>T, NM_001286359.2:c.13C>G, NM_001286359.1:c.13C>T, NM_001286359.1:c.13C>G, NM_001286356.2:c.13C>T, NM_001286356.2:c.13C>G, NM_001286356.1:c.13C>T, NM_001286356.1:c.13C>G, NM_001286358.2:c.13C>T, NM_001286358.2:c.13C>G, NM_001286358.1:c.13C>T, NM_001286358.1:c.13C>G, NM_001286357.2:c.13C>T, NM_001286357.2:c.13C>G, NM_001286357.1:c.13C>T, NM_001286357.1:c.13C>G, NR_104428.2:n.123C>T, NR_104428.2:n.123C>G, NR_104428.1:n.123C>T, NR_104428.1:n.123C>G, NP_002753.2:p.Arg5Cys, NP_002753.2:p.Arg5Gly, NP_001273288.1:p.Arg5Cys, NP_001273288.1:p.Arg5Gly, NP_001273285.1:p.Arg5Cys, NP_001273285.1:p.Arg5Gly, NP_001273287.1:p.Arg5Cys, NP_001273287.1:p.Arg5Gly, NP_001273286.1:p.Arg5Cys, NP_001273286.1:p.Arg5Gly

Select item 14535400578.

rs1453540057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11276144 (GRCh38)
16:11370001 (GRCh37)
Canonical SPDI:: NC_000016.10:11276143:C:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.11276144C>T, NC_000016.9:g.11370001C>T, NM_002762.4:c.227G>A, NM_002762.3:c.227G>A, NM_002762.2:c.227G>A, NM_001286359.2:c.227G>A, NM_001286359.1:c.227G>A, NM_001286356.2:c.227G>A, NM_001286356.1:c.227G>A, NM_001286358.2:c.227G>A, NM_001286358.1:c.227G>A, NM_001286357.2:c.227G>A, NM_001286357.1:c.227G>A, NR_104428.2:n.337G>A, NR_104428.1:n.337G>A, NP_002753.2:p.Arg76Lys, NP_001273288.1:p.Arg76Lys, NP_001273285.1:p.Arg76Lys, NP_001273287.1:p.Arg76Lys, NP_001273286.1:p.Arg76Lys

Select item 14461249719.

rs1446124971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:11275919 (GRCh38)
16:11369776 (GRCh37)
Canonical SPDI:: NC_000016.10:11275918:C:G
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.11275919C>G, NC_000016.9:g.11369776C>G, NM_002762.4:c.290G>C, NM_002762.3:c.290G>C, NM_002762.2:c.290G>C, NM_001286359.2:c.*28G>C, NM_001286359.1:c.*28G>C, NM_001286356.2:c.334G>C, NM_001286356.1:c.334G>C, NM_001286358.2:c.283G>C, NM_001286358.1:c.283G>C, NR_104428.2:n.400G>C, NR_104428.1:n.400G>C, NP_002753.2:p.Arg97Thr, NP_001273285.1:p.Glu112Gln, NP_001273287.1:p.Glu95Gln

Select item 144554962110.

rs1445549621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 16:11276345 (GRCh38)
16:11370202 (GRCh37)
Canonical SPDI:: NC_000016.10:11276344:A:C,NC_000016.10:11276344:A:G,NC_000016.10:11276344:A:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.11276345A>C, NC_000016.10:g.11276345A>G, NC_000016.10:g.11276345A>T, NC_000016.9:g.11370202A>C, NC_000016.9:g.11370202A>G, NC_000016.9:g.11370202A>T, NM_002762.4:c.26T>G, NM_002762.4:c.26T>C, NM_002762.4:c.26T>A, NM_002762.3:c.26T>G, NM_002762.3:c.26T>C, NM_002762.3:c.26T>A, NM_002762.2:c.26T>G, NM_002762.2:c.26T>C, NM_002762.2:c.26T>A, NM_001286359.2:c.26T>G, NM_001286359.2:c.26T>C, NM_001286359.2:c.26T>A, NM_001286359.1:c.26T>G, NM_001286359.1:c.26T>C, NM_001286359.1:c.26T>A, NM_001286356.2:c.26T>G, NM_001286356.2:c.26T>C, NM_001286356.2:c.26T>A, NM_001286356.1:c.26T>G, NM_001286356.1:c.26T>C, NM_001286356.1:c.26T>A, NM_001286358.2:c.26T>G, NM_001286358.2:c.26T>C, NM_001286358.2:c.26T>A, NM_001286358.1:c.26T>G, NM_001286358.1:c.26T>C, NM_001286358.1:c.26T>A, NM_001286357.2:c.26T>G, NM_001286357.2:c.26T>C, NM_001286357.2:c.26T>A, NM_001286357.1:c.26T>G, NM_001286357.1:c.26T>C, NM_001286357.1:c.26T>A, NR_104428.2:n.136T>G, NR_104428.2:n.136T>C, NR_104428.2:n.136T>A, NR_104428.1:n.136T>G, NR_104428.1:n.136T>C, NR_104428.1:n.136T>A, NP_002753.2:p.Leu9Arg, NP_002753.2:p.Leu9Pro, NP_002753.2:p.Leu9Gln, NP_001273288.1:p.Leu9Arg, NP_001273288.1:p.Leu9Pro, NP_001273288.1:p.Leu9Gln, NP_001273285.1:p.Leu9Arg, NP_001273285.1:p.Leu9Pro, NP_001273285.1:p.Leu9Gln, NP_001273287.1:p.Leu9Arg, NP_001273287.1:p.Leu9Pro, NP_001273287.1:p.Leu9Gln, NP_001273286.1:p.Leu9Arg, NP_001273286.1:p.Leu9Pro, NP_001273286.1:p.Leu9Gln

Select item 143759916911.

rs1437599169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11275905 (GRCh38)
16:11369762 (GRCh37)
Canonical SPDI:: NC_000016.10:11275904:G:A
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000016.10:g.11275905G>A, NC_000016.9:g.11369762G>A, NM_002762.4:c.304C>T, NM_002762.3:c.304C>T, NM_002762.2:c.304C>T, NM_001286359.2:c.*42C>T, NM_001286359.1:c.*42C>T, NM_001286356.2:c.348C>T, NM_001286356.1:c.348C>T, NM_001286358.2:c.297C>T, NM_001286358.1:c.297C>T, NM_001286357.2:c.229C>T, NM_001286357.1:c.229C>T, NR_104428.2:n.414C>T, NR_104428.1:n.414C>T, NP_002753.2:p.His102Tyr, NP_001273286.1:p.His77Tyr

Select item 143676542212.

rs1436765422 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:11276103 (GRCh38)
16:11369960 (GRCh37)
Canonical SPDI:: NC_000016.10:11276102:T:C
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11276103T>C, NC_000016.9:g.11369960T>C, NM_002762.4:c.268A>G, NM_002762.3:c.268A>G, NM_002762.2:c.268A>G, NM_001286359.2:c.268A>G, NM_001286359.1:c.268A>G, NM_001286356.2:c.268A>G, NM_001286356.1:c.268A>G, NM_001286358.2:c.268A>G, NM_001286358.1:c.268A>G, NR_104428.2:n.378A>G, NR_104428.1:n.378A>G, NP_002753.2:p.Arg90Gly, NP_001273288.1:p.Arg90Gly, NP_001273285.1:p.Arg90Gly, NP_001273287.1:p.Arg90Gly

Select item 143365611813.

rs1433656118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11276326 (GRCh38)
16:11370183 (GRCh37)
Canonical SPDI:: NC_000016.10:11276325:C:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11276326C>T, NC_000016.9:g.11370183C>T, NM_002762.4:c.45G>A, NM_002762.3:c.45G>A, NM_002762.2:c.45G>A, NM_001286359.2:c.45G>A, NM_001286359.1:c.45G>A, NM_001286356.2:c.45G>A, NM_001286356.1:c.45G>A, NM_001286358.2:c.45G>A, NM_001286358.1:c.45G>A, NM_001286357.2:c.45G>A, NM_001286357.1:c.45G>A, NR_104428.2:n.155G>A, NR_104428.1:n.155G>A

Select item 143257398614.

rs1432573986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:11275840 (GRCh38)
16:11369697 (GRCh37)
Canonical SPDI:: NC_000016.10:11275839:A:C
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.11275840A>C, NC_000016.9:g.11369697A>C, NM_002762.4:c.*60T>G, NM_002762.3:c.*60T>G, NM_002762.2:c.*60T>G, NM_001286359.2:c.*107T>G, NM_001286359.1:c.*107T>G, NM_001286356.2:c.413T>G, NM_001286356.1:c.413T>G, NM_001286358.2:c.362T>G, NM_001286358.1:c.362T>G, NM_001286357.2:c.*60T>G, NM_001286357.1:c.*60T>G, NR_104428.2:n.479T>G, NR_104428.1:n.479T>G, NP_001273285.1:p.Val138Gly, NP_001273287.1:p.Val121Gly

Select item 142181049315.

rs1421810493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11276253 (GRCh38)
16:11370110 (GRCh37)
Canonical SPDI:: NC_000016.10:11276252:G:A
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.11276253G>A, NC_000016.9:g.11370110G>A, NM_002762.4:c.118C>T, NM_002762.3:c.118C>T, NM_002762.2:c.118C>T, NM_001286359.2:c.118C>T, NM_001286359.1:c.118C>T, NM_001286356.2:c.118C>T, NM_001286356.1:c.118C>T, NM_001286358.2:c.118C>T, NM_001286358.1:c.118C>T, NM_001286357.2:c.118C>T, NM_001286357.1:c.118C>T, NR_104428.2:n.228C>T, NR_104428.1:n.228C>T, NP_002753.2:p.His40Tyr, NP_001273288.1:p.His40Tyr, NP_001273285.1:p.His40Tyr, NP_001273287.1:p.His40Tyr, NP_001273286.1:p.His40Tyr

Select item 142015177016.

rs1420151770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11276258 (GRCh38)
16:11370115 (GRCh37)
Canonical SPDI:: NC_000016.10:11276257:G:A
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11276258G>A, NC_000016.9:g.11370115G>A, NM_002762.4:c.113C>T, NM_002762.3:c.113C>T, NM_002762.2:c.113C>T, NM_001286359.2:c.113C>T, NM_001286359.1:c.113C>T, NM_001286356.2:c.113C>T, NM_001286356.1:c.113C>T, NM_001286358.2:c.113C>T, NM_001286358.1:c.113C>T, NM_001286357.2:c.113C>T, NM_001286357.1:c.113C>T, NR_104428.2:n.223C>T, NR_104428.1:n.223C>T, NP_002753.2:p.Pro38Leu, NP_001273288.1:p.Pro38Leu, NP_001273285.1:p.Pro38Leu, NP_001273287.1:p.Pro38Leu, NP_001273286.1:p.Pro38Leu

Select item 140563289117.

rs1405632891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:11276343 (GRCh38)
16:11370200 (GRCh37)
Canonical SPDI:: NC_000016.10:11276342:T:G
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.11276343T>G, NC_000016.9:g.11370200T>G, NM_002762.4:c.28A>C, NM_002762.3:c.28A>C, NM_002762.2:c.28A>C, NM_001286359.2:c.28A>C, NM_001286359.1:c.28A>C, NM_001286356.2:c.28A>C, NM_001286356.1:c.28A>C, NM_001286358.2:c.28A>C, NM_001286358.1:c.28A>C, NM_001286357.2:c.28A>C, NM_001286357.1:c.28A>C, NR_104428.2:n.138A>C, NR_104428.1:n.138A>C, NP_002753.2:p.Ser10Arg, NP_001273288.1:p.Ser10Arg, NP_001273285.1:p.Ser10Arg, NP_001273287.1:p.Ser10Arg, NP_001273286.1:p.Ser10Arg

Select item 140415018218.

rs1404150182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11275892 (GRCh38)
16:11369749 (GRCh37)
Canonical SPDI:: NC_000016.10:11275891:C:T
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.11275892C>T, NC_000016.9:g.11369749C>T, NM_002762.4:c.*8G>A, NM_002762.3:c.*8G>A, NM_002762.2:c.*8G>A, NM_001286359.2:c.*55G>A, NM_001286359.1:c.*55G>A, NM_001286356.2:c.361G>A, NM_001286356.1:c.361G>A, NM_001286358.2:c.310G>A, NM_001286358.1:c.310G>A, NM_001286357.2:c.*8G>A, NM_001286357.1:c.*8G>A, NR_104428.2:n.427G>A, NR_104428.1:n.427G>A, NP_001273285.1:p.Gly121Arg, NP_001273287.1:p.Gly104Arg

Select item 139492831719.

rs1394928317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:11276291 (GRCh38)
16:11370148 (GRCh37)
Canonical SPDI:: NC_000016.10:11276290:C:G
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.11276291C>G, NC_000016.9:g.11370148C>G, NM_002762.4:c.80G>C, NM_002762.3:c.80G>C, NM_002762.2:c.80G>C, NM_001286359.2:c.80G>C, NM_001286359.1:c.80G>C, NM_001286356.2:c.80G>C, NM_001286356.1:c.80G>C, NM_001286358.2:c.80G>C, NM_001286358.1:c.80G>C, NM_001286357.2:c.80G>C, NM_001286357.1:c.80G>C, NR_104428.2:n.190G>C, NR_104428.1:n.190G>C, NP_002753.2:p.Gly27Ala, NP_001273288.1:p.Gly27Ala, NP_001273285.1:p.Gly27Ala, NP_001273287.1:p.Gly27Ala, NP_001273286.1:p.Gly27Ala

Select item 138425433320.

rs1384254333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11276106 (GRCh38)
16:11369963 (GRCh37)
Canonical SPDI:: NC_000016.10:11276105:G:A
Gene:: PRM2 (Varview), LOC105371082 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.11276106G>A, NC_000016.9:g.11369963G>A, NM_002762.4:c.265C>T, NM_002762.3:c.265C>T, NM_002762.2:c.265C>T, NM_001286359.2:c.265C>T, NM_001286359.1:c.265C>T, NM_001286356.2:c.265C>T, NM_001286356.1:c.265C>T, NM_001286358.2:c.265C>T, NM_001286358.1:c.265C>T, NR_104428.2:n.375C>T, NR_104428.1:n.375C>T, NP_002753.2:p.Arg89Cys, NP_001273288.1:p.Arg89Cys, NP_001273285.1:p.Arg89Cys, NP_001273287.1:p.Arg89Cys

dbSNP

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