Canonical Allele Identifier: CA035982

Gene: MSH2

Linked Data

• ClinVar Variation Id: 389727
• ClinVar RCV Id: RCV001181938 ; RCV001721391 ; RCV002063486
• dbSNP Id: rs267608012
• ExAC: 2:47707823 A / C
• gnomAD v2: 2-47707823-A-C
• gnomAD v3: 2-47480684-A-C
• gnomAD v4: 2-47480684-A-C
• MyVariant Identifiers: chr2:g.47707823A>C (hg19) ; chr2:g.47480684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480684A>C , CM000664.2:g.47480684A>C	GRCh38
NC_000002.11:g.47707823A>C , CM000664.1:g.47707823A>C	GRCh37
NC_000002.10:g.47561327A>C	NCBI36
NG_007110.2:g.82561A>C , LRG_218:g.82561A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2459-12A>C	ENSP00000495641.2:n.2459-12A>C
ENST00000233146.7:c.2459-12A>C MANE Select	ENSP00000233146.2:n.2459-12A>C
ENST00000543555.6:c.2261-12A>C	ENSP00000442697.1:n.2261-12A>C
ENST00000644092.1:c.*759-12A>C	ENSP00000496351.1:n.*759-12A>C
ENST00000644900.1:c.312-12A>C
ENST00000645339.1:c.2459-12A>C	ENSP00000496441.1:n.2459-12A>C
ENST00000645506.1:c.2459-12A>C	ENSP00000495455.1:n.2459-12A>C
ENST00000646415.1:c.2459-12A>C	ENSP00000495543.1:n.2459-12A>C
ENST00000233146.6:c.2459-12A>C	ENSP00000233146.2:n.2459-12A>C
ENST00000406134.5:c.2459-12A>C	ENSP00000384199.1:n.2459-12A>C
ENST00000543555.5:c.2261-12A>C	ENSP00000442697.1:n.2261-12A>C
ENST00000610696.4:c.*855-12A>C	ENSP00000483159.1:n.*855-12A>C
ENST00000613514.4:c.*999-12A>C	ENSP00000484137.1:n.*999-12A>C
ENST00000617333.3:c.*1225-12A>C	ENSP00000482468.1:n.*1225-12A>C
ENST00000617938.4:c.*1431-12A>C	ENSP00000481158.1:n.*1431-12A>C
ENST00000621359.2:c.*25-12A>C	ENSP00000481416.1:n.*25-12A>C
NM_000251.2:c.2459-12A>C , LRG_218t1:c.2459-12A>C	NP_000242.1:n.2459-12A>C
NM_001258281.1:c.2261-12A>C	NP_001245210.1:n.2261-12A>C
XM_005264332.2:c.2459-12A>C	XP_005264389.2:n.2459-12A>C
XM_011532867.1:c.2459-12A>C	XP_011531169.1:n.2459-12A>C
XR_939685.1:n.2531-12A>C
XM_005264332.4:c.2459-12A>C	XP_005264389.2:n.2459-12A>C
XM_011532867.2:c.2459-12A>C	XP_011531169.1:n.2459-12A>C
XR_001738747.2:n.2521-12A>C
XR_939685.2:n.2521-12A>C
NM_000251.3:c.2459-12A>C MANE Select	NP_000242.1:n.2459-12A>C