Canonical Allele Identifier: CA5725731
Gene: ARMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 299029
ClinVar RCV Id: RCV000316955 RCV003983000
dbSNP Id: rs2736911
ExAC: 10:124214355 C / T
gnomAD v2: 10-124214355-C-T
gnomAD v3: 10-122454839-C-T
gnomAD v4: 10-122454839-C-T
MyVariant Identifiers: chr10:g.124214355C>T (hg19) chr10:g.122454839C>T (hg38)
PubMed: PMID:18688167 PMID:20140183 PMID:21252205 PMID:22293892
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122454839C>T , CM000672.2:g.122454839C>T GRCh38
NC_000010.10:g.124214355C>T , CM000672.1:g.124214355C>T GRCh37
NC_000010.9:g.124204345C>T NCBI36
NG_011725.1:g.5177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000528446.1:c.112C>T MANE Select ENSP00000436682.1:p.Arg38Ter
NM_001099667.1:c.112C>T NP_001093137.1:p.Arg38Ter
XR_946382.1:n.1827+3656G>A
XR_946383.1:n.1827+3656G>A
XR_946384.1:n.1576+3656G>A
NM_001099667.2:c.112C>T NP_001093137.1:p.Arg38Ter
XR_946382.2:n.1855+3656G>A
XR_946383.2:n.1855+3656G>A
XR_946384.2:n.1580+3656G>A
NM_001099667.3:c.112C>T MANE Select NP_001093137.1:p.Arg38Ter
Search 100 bp 5'
Search 100 bp 3'