Canonical Allele Identifier: CA021900

Gene: MSH2

Linked Data

• ClinVar Variation Id: 186295
• ClinVar RCV Id: RCV000165866
• dbSNP Id: rs786202841
• gnomAD v4: 2-47403098-C-T
• MyVariant Identifiers: chr2:g.47630237C>T (hg19) ; chr2:g.47403098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403098C>T , CM000664.2:g.47403098C>T	GRCh38
NC_000002.11:g.47630237C>T , CM000664.1:g.47630237C>T	GRCh37
NC_000002.10:g.47483741C>T	NCBI36
NG_007110.2:g.4975C>T , LRG_218:g.4975C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000543555.6:c.-108C>T	ENSP00000442697.1:n.-108C>T
ENST00000233146.6:c.-94C>T	ENSP00000233146.2:n.-94C>T
ENST00000454849.5:c.-108C>T	ENSP00000411482.1:n.-108C>T
ENST00000543555.5:c.-108C>T	ENSP00000442697.1:n.-108C>T
NM_000251.2:c.-94C>T , LRG_218t1:c.-94C>T	NP_000242.1:n.-94C>T
NM_001258281.1:c.-108C>T	NP_001245210.1:n.-108C>T