Canonical Allele Identifier: CA10613574

Gene: MSH2

Linked Data

• ClinVar Variation Id: 336423
• ClinVar RCV Id: RCV000307047 ; RCV002374581
• dbSNP Id: rs786202841
• gnomAD v2: 2-47630237-C-G
• gnomAD v3: 2-47403098-C-G
• gnomAD v4: 2-47403098-C-G
• MyVariant Identifiers: chr2:g.47630237C>G (hg19) ; chr2:g.47403098C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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