Canonical Allele Identifier: CA022010

Gene: MSH2

Linked Data

• ClinVar Variation Id: 142724
• ClinVar RCV Id: RCV000132097 ; RCV001139262 ; RCV004544302
• dbSNP Id: rs34355730
• gnomAD v2: 2-47630255-G-A
• gnomAD v3: 2-47403116-G-A
• gnomAD v4: 2-47403116-G-A
• MyVariant Identifiers: chr2:g.47630255G>A (hg19) ; chr2:g.47403116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403116G>A , CM000664.2:g.47403116G>A	GRCh38
NC_000002.11:g.47630255G>A , CM000664.1:g.47630255G>A	GRCh37
NC_000002.10:g.47483759G>A	NCBI36
NG_007110.2:g.4993G>A , LRG_218:g.4993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-90G>A	ENSP00000442697.1:n.-90G>A
ENST00000233146.6:c.-76G>A	ENSP00000233146.2:n.-76G>A
ENST00000454849.5:c.-90G>A	ENSP00000411482.1:n.-90G>A
ENST00000543555.5:c.-90G>A	ENSP00000442697.1:n.-90G>A
NM_000251.2:c.-76G>A , LRG_218t1:c.-76G>A	NP_000242.1:n.-76G>A
NM_001258281.1:c.-90G>A	NP_001245210.1:n.-90G>A