Canonical Allele Identifier: CA021923

Gene: MSH2

Linked Data

• ClinVar Variation Id: 186353
• ClinVar RCV Id: RCV000165934 ; RCV001818386
• dbSNP Id: rs786202882
• gnomAD v3: 2-47403086-G-C
• gnomAD v4: 2-47403086-G-C
• MyVariant Identifiers: chr2:g.47630225G>C (hg19) ; chr2:g.47403086G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403086G>C , CM000664.2:g.47403086G>C	GRCh38
NC_000002.11:g.47630225G>C , CM000664.1:g.47630225G>C	GRCh37
NC_000002.10:g.47483729G>C	NCBI36
NG_007110.2:g.4963G>C , LRG_218:g.4963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-120G>C	ENSP00000442697.1:n.-120G>C
ENST00000233146.6:c.-106G>C	ENSP00000233146.2:n.-106G>C
ENST00000454849.5:c.-120G>C	ENSP00000411482.1:n.-120G>C
ENST00000543555.5:c.-120G>C	ENSP00000442697.1:n.-120G>C
NM_000251.2:c.-106G>C , LRG_218t1:c.-106G>C	NP_000242.1:n.-106G>C
NM_001258281.1:c.-120G>C	NP_001245210.1:n.-120G>C