Canonical Allele Identifier: CA532704922

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1756067
• ClinVar RCV Id: RCV002378059
• dbSNP Id: rs576303132
• gnomAD v2: 2-47630263-G-T
• gnomAD v3: 2-47403124-G-T
• gnomAD v4: 2-47403124-G-T
• MyVariant Identifiers: chr2:g.47630263G>T (hg19) ; chr2:g.47403124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403124G>T , CM000664.2:g.47403124G>T	GRCh38
NC_000002.11:g.47630263G>T , CM000664.1:g.47630263G>T	GRCh37
NC_000002.10:g.47483767G>T	NCBI36
NG_007110.2:g.5001G>T , LRG_218:g.5001G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000543555.6:c.-82G>T	ENSP00000442697.1:n.-82G>T
ENST00000644092.1:c.-68G>T	ENSP00000496351.1:n.-68G>T
ENST00000645339.1:c.-68G>T	ENSP00000496441.1:n.-68G>T
ENST00000645506.1:c.-68G>T	ENSP00000495455.1:n.-68G>T
ENST00000646415.1:c.-68G>T	ENSP00000495543.1:n.-68G>T
ENST00000233146.6:c.-68G>T	ENSP00000233146.2:n.-68G>T
ENST00000454849.5:c.-82G>T	ENSP00000411482.1:n.-82G>T
ENST00000543555.5:c.-82G>T	ENSP00000442697.1:n.-82G>T
NM_000251.2:c.-68G>T , LRG_218t1:c.-68G>T	NP_000242.1:n.-68G>T
NM_001258281.1:c.-82G>T	NP_001245210.1:n.-82G>T
XM_005264332.2:c.-68G>T	XP_005264389.2:n.-68G>T
XM_011532867.1:c.-68G>T	XP_011531169.1:n.-68G>T
XR_939685.1:n.5G>T