Canonical Allele Identifier: CA040882

Gene: MSH2

Linked Data

• ClinVar Variation Id: 237412
• ClinVar RCV Id: RCV000232025 ; RCV000422592 ; RCV000573521 ; RCV000986654 ; RCV001705241 ; RCV003955301
• dbSNP Id: rs150197753
• ExAC: 2:47641458 A / T
• gnomAD v2: 2-47641458-A-T
• gnomAD v3: 2-47414319-A-T
• gnomAD v4: 2-47414319-A-T
• MyVariant Identifiers: chr2:g.47641458A>T (hg19) ; chr2:g.47414319A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414319A>T , CM000664.2:g.47414319A>T	GRCh38
NC_000002.11:g.47641458A>T , CM000664.1:g.47641458A>T	GRCh37
NC_000002.10:g.47494962A>T	NCBI36
NG_007110.2:g.16196A>T , LRG_218:g.16196A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.843A>T	ENSP00000495641.2:p.Ser281=
ENST00000233146.7:c.843A>T MANE Select	ENSP00000233146.2:p.Ser281=
ENST00000543555.6:c.645A>T	ENSP00000442697.1:p.Ser215=
ENST00000644092.1:c.843A>T	ENSP00000496351.1:p.Ser281=
ENST00000645339.1:c.843A>T	ENSP00000496441.1:p.Ser281=
ENST00000645506.1:c.843A>T	ENSP00000495455.1:p.Ser281=
ENST00000646415.1:c.843A>T	ENSP00000495543.1:p.Ser281=
ENST00000233146.6:c.843A>T	ENSP00000233146.2:p.Ser281=
ENST00000406134.5:c.843A>T	ENSP00000384199.1:p.Ser281=
ENST00000543555.5:c.645A>T	ENSP00000442697.1:p.Ser215=
ENST00000610696.4:c.843A>T	ENSP00000483159.1:p.Ser281=
ENST00000613514.4:c.843A>T	ENSP00000484137.1:p.Ser281=
ENST00000617333.3:c.843A>T	ENSP00000482468.1:p.Ser281=
ENST00000617938.4:c.843A>T	ENSP00000481158.1:p.Ser281=
ENST00000621359.2:c.843A>T	ENSP00000481416.1:p.Ser281=
NM_000251.2:c.843A>T , LRG_218t1:c.843A>T	NP_000242.1:p.Ser281=
NM_001258281.1:c.645A>T	NP_001245210.1:p.Ser215=
XM_005264332.2:c.843A>T	XP_005264389.2:p.Ser281=
XM_011532867.1:c.843A>T	XP_011531169.1:p.Ser281=
XR_939685.1:n.915A>T
XM_005264332.4:c.843A>T	XP_005264389.2:p.Ser281=
XM_011532867.2:c.843A>T	XP_011531169.1:p.Ser281=
XR_001738747.2:n.905A>T
XR_939685.2:n.905A>T
NM_000251.3:c.843A>T MANE Select	NP_000242.1:p.Ser281=