Canonical Allele Identifier: CA10577909

Gene: MSH2

Linked Data

• ClinVar Variation Id: 230527
• ClinVar RCV Id: RCV000218583 ; RCV003997844
• dbSNP Id: rs876658616
• gnomAD v3: 2-47403114-T-A
• gnomAD v4: 2-47403114-T-A
• MyVariant Identifiers: chr2:g.47630253T>A (hg19) ; chr2:g.47403114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403114T>A , CM000664.2:g.47403114T>A	GRCh38
NC_000002.11:g.47630253T>A , CM000664.1:g.47630253T>A	GRCh37
NC_000002.10:g.47483757T>A	NCBI36
NG_007110.2:g.4991T>A , LRG_218:g.4991T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-92T>A	ENSP00000442697.1:n.-92T>A
ENST00000233146.6:c.-78T>A	ENSP00000233146.2:n.-78T>A
ENST00000454849.5:c.-92T>A	ENSP00000411482.1:n.-92T>A
ENST00000543555.5:c.-92T>A	ENSP00000442697.1:n.-92T>A
NM_000251.2:c.-78T>A , LRG_218t1:c.-78T>A	NP_000242.1:n.-78T>A
NM_001258281.1:c.-92T>A	NP_001245210.1:n.-92T>A