Canonical Allele Identifier: CA017214

Gene: MSH2

Linked Data

• ClinVar Variation Id: 142695
• ClinVar RCV Id: RCV000132057 ; RCV001818329
• dbSNP Id: rs587782649
• gnomAD v2: 2-47630224-C-A
• gnomAD v3: 2-47403085-C-A
• gnomAD v4: 2-47403085-C-A
• MyVariant Identifiers: chr2:g.47630224C>A (hg19) ; chr2:g.47403085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403085C>A , CM000664.2:g.47403085C>A	GRCh38
NC_000002.11:g.47630224C>A , CM000664.1:g.47630224C>A	GRCh37
NC_000002.10:g.47483728C>A	NCBI36
NG_007110.2:g.4962C>A , LRG_218:g.4962C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-121C>A	ENSP00000442697.1:n.-121C>A
ENST00000233146.6:c.-107C>A	ENSP00000233146.2:n.-107C>A
ENST00000454849.5:c.-121C>A	ENSP00000411482.1:n.-121C>A
ENST00000543555.5:c.-121C>A	ENSP00000442697.1:n.-121C>A
NM_000251.2:c.-107C>A , LRG_218t1:c.-107C>A	NP_000242.1:n.-107C>A
NM_001258281.1:c.-121C>A	NP_001245210.1:n.-121C>A