Canonical Allele Identifier: CA214411108

Gene: ARMS2

Linked Data

• dbSNP Id: rs889565655
• gnomAD v2: 10-124214456-C-T
• gnomAD v3: 10-122454940-C-T
• gnomAD v4: 10-122454940-C-T
• COSMIC: COSM3435008
• MyVariant Identifiers: chr10:g.124214456C>T (hg19) ; chr10:g.122454940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122454940C>T , CM000672.2:g.122454940C>T	GRCh38
NC_000010.10:g.124214456C>T , CM000672.1:g.124214456C>T	GRCh37
NC_000010.9:g.124204446C>T	NCBI36
NG_011725.1:g.5278C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000528446.1:c.213C>T MANE Select	ENSP00000436682.1:p.Ile71=
NM_001099667.1:c.213C>T	NP_001093137.1:p.Ile71=
XR_946382.1:n.1827+3555G>A
XR_946383.1:n.1827+3555G>A
XR_946384.1:n.1576+3555G>A
XR_946385.1:n.1909G>A
NM_001099667.2:c.213C>T	NP_001093137.1:p.Ile71=
XR_946382.2:n.1855+3555G>A
XR_946383.2:n.1855+3555G>A
XR_946384.2:n.1580+3555G>A
XR_946385.2:n.1937G>A
NM_001099667.3:c.213C>T MANE Select	NP_001093137.1:p.Ile71=