Canonical Allele Identifier: CA46665980

Gene: MSH2

Linked Data

• dbSNP Id: rs1051901283
• gnomAD v4: 2-47403029-G-T
• MyVariant Identifiers: chr2:g.47630168G>T (hg19) ; chr2:g.47403029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403029G>T , CM000664.2:g.47403029G>T	GRCh38
NC_000002.11:g.47630168G>T , CM000664.1:g.47630168G>T	GRCh37
NC_000002.10:g.47483672G>T	NCBI36
NG_007110.2:g.4906G>T , LRG_218:g.4906G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-163G>T	ENSP00000233146.2:n.-163G>T