Canonical Allele Identifier: CA021764

Gene: MSH2

Linked Data

• ClinVar Variation Id: 141069
• ClinVar RCV Id: RCV000129414 ; RCV000410292 ; RCV000679280
• dbSNP Id: rs17224094
• gnomAD v2: 2-47630152-C-T
• gnomAD v3: 2-47403013-C-T
• gnomAD v4: 2-47403013-C-T
• MyVariant Identifiers: chr2:g.47630152C>T (hg19) ; chr2:g.47403013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403013C>T , CM000664.2:g.47403013C>T	GRCh38
NC_000002.11:g.47630152C>T , CM000664.1:g.47630152C>T	GRCh37
NC_000002.10:g.47483656C>T	NCBI36
NG_007110.2:g.4890C>T , LRG_218:g.4890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-179C>T	ENSP00000233146.2:n.-179C>T