Canonical Allele Identifier: CA017450

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90485
• ClinVar RCV Id: RCV000075980 ; RCV000162385 ; RCV000253946 ; RCV000986639 ; RCV000860040 ; RCV001519741
• dbSNP Id: rs2303425
• gnomAD v2: 2-47630213-T-C
• gnomAD v3: 2-47403074-T-C
• gnomAD v4: 2-47403074-T-C
• MyVariant Identifiers: chr2:g.47630213T>C (hg19) ; chr2:g.47403074T>C (hg38)
• PubMed: PMID:18186537 ; PMID:18547406

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403074T>C , CM000664.2:g.47403074T>C	GRCh38
NC_000002.11:g.47630213T>C , CM000664.1:g.47630213T>C	GRCh37
NC_000002.10:g.47483717T>C	NCBI36
NG_007110.2:g.4951T>C , LRG_218:g.4951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-132T>C	ENSP00000442697.1:n.-132T>C
ENST00000233146.6:c.-118T>C	ENSP00000233146.2:n.-118T>C
ENST00000454849.5:c.-132T>C	ENSP00000411482.1:n.-132T>C
ENST00000543555.5:c.-132T>C	ENSP00000442697.1:n.-132T>C
NM_000251.2:c.-118T>C , LRG_218t1:c.-118T>C	NP_000242.1:n.-118T>C
NM_001258281.1:c.-132T>C	NP_001245210.1:n.-132T>C