Canonical Allele Identifier: CA10634818

Gene: ARMS2

Linked Data

• ClinVar Variation Id: 299037
• ClinVar RCV Id: RCV000347960
• dbSNP Id: rs578150200
• gnomAD v2: 10-124216700-T-C
• gnomAD v3: 10-122457184-T-C
• gnomAD v4: 10-122457184-T-C
• MyVariant Identifiers: chr10:g.124216700T>C (hg19) ; chr10:g.122457184T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122457184T>C , CM000672.2:g.122457184T>C	GRCh38
NC_000010.10:g.124216700T>C , CM000672.1:g.124216700T>C	GRCh37
NC_000010.9:g.124206690T>C	NCBI36
NG_011554.1:g.660T>C
NG_011725.1:g.7522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528446.1:c.*251T>C MANE Select	ENSP00000436682.1:n.*251T>C
NM_001099667.1:c.*251T>C	NP_001093137.1:n.*251T>C
XR_946382.1:n.1827+1311A>G
XR_946383.1:n.1827+1311A>G
XR_946384.1:n.1576+1311A>G
XR_946385.1:n.1827+1311A>G
NM_001099667.2:c.*251T>C	NP_001093137.1:n.*251T>C
XR_946382.2:n.1855+1311A>G
XR_946383.2:n.1855+1311A>G
XR_946384.2:n.1580+1311A>G
XR_946385.2:n.1855+1311A>G
NM_001099667.3:c.*251T>C MANE Select	NP_001093137.1:n.*251T>C