Canonical Allele Identifier: CA114686

Gene: ARMS2

Linked Data

• ClinVar Variation Id: 979
• ClinVar RCV Id: RCV000001030 ; RCV000190307 ; RCV003982819
• dbSNP Id: rs10490924
• ExAC: 10:124214448 G / T
• gnomAD v2: 10-124214448-G-T
• gnomAD v3: 10-122454932-G-T
• gnomAD v4: 10-122454932-G-T
• MyVariant Identifiers: chr10:g.124214448G>T (hg19) ; chr10:g.122454932G>T (hg38)
• PubMed: PMID:16174643 ; PMID:16642439 ; PMID:16936732 ; PMID:17884985 ; PMID:19259132 ; PMID:21031019 ; PMID:21236409 ; PMID:21670343 ; PMID:23326481 ; PMID:23455636

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122454932G>T , CM000672.2:g.122454932G>T	GRCh38
NC_000010.10:g.124214448G>T , CM000672.1:g.124214448G>T	GRCh37
NC_000010.9:g.124204438G>T	NCBI36
NG_011725.1:g.5270G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528446.1:c.205G>T MANE Select	ENSP00000436682.1:p.Ala69Ser
NM_001099667.1:c.205G>T	NP_001093137.1:p.Ala69Ser
XR_946382.1:n.1827+3563C>A
XR_946383.1:n.1827+3563C>A
XR_946384.1:n.1576+3563C>A
NM_001099667.2:c.205G>T	NP_001093137.1:p.Ala69Ser
XR_946382.2:n.1855+3563C>A
XR_946383.2:n.1855+3563C>A
XR_946384.2:n.1580+3563C>A
NM_001099667.3:c.205G>T MANE Select	NP_001093137.1:p.Ala69Ser