Canonical Allele Identifier: CA16404342

Gene: ARMS2

Linked Data

• dbSNP Id: rs36212733
• gnomAD v2: 10-124215211-T-C
• gnomAD v3: 10-122455695-T-C
• gnomAD v4: 10-122455695-T-C
• MyVariant Identifiers: chr10:g.124215211T>C (hg19) ; chr10:g.122455695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122455695T>C , CM000672.2:g.122455695T>C	GRCh38
NC_000010.10:g.124215211T>C , CM000672.1:g.124215211T>C	GRCh37
NC_000010.9:g.124205201T>C	NCBI36
NG_011725.1:g.6033T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000528446.1:c.297+671T>C MANE Select	ENSP00000436682.1:n.297+671T>C
NM_001099667.1:c.297+671T>C	NP_001093137.1:n.297+671T>C
XR_946382.1:n.1827+2800A>G
XR_946383.1:n.1827+2800A>G
XR_946384.1:n.1576+2800A>G
XR_946385.1:n.1828-674A>G
NM_001099667.2:c.297+671T>C	NP_001093137.1:n.297+671T>C
XR_946382.2:n.1855+2800A>G
XR_946383.2:n.1855+2800A>G
XR_946384.2:n.1580+2800A>G
XR_946385.2:n.1856-674A>G
NM_001099667.3:c.297+671T>C MANE Select	NP_001093137.1:n.297+671T>C