Canonical Allele Identifier: CA040664

Gene: MSH2

Linked Data

• ClinVar Variation Id: 455614
• ClinVar RCV Id: RCV000531880 ; RCV002420349
• dbSNP Id: rs63749903
• ExAC: 2:47641410 T / G
• gnomAD v2: 2-47641410-T-G
• MyVariant Identifiers: chr2:g.47641410T>G (hg19) ; chr2:g.47414271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414271T>G , CM000664.2:g.47414271T>G	GRCh38
NC_000002.11:g.47641410T>G , CM000664.1:g.47641410T>G	GRCh37
NC_000002.10:g.47494914T>G	NCBI36
NG_007110.2:g.16148T>G , LRG_218:g.16148T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.795T>G	ENSP00000495641.2:p.Val265=
ENST00000233146.7:c.795T>G MANE Select	ENSP00000233146.2:p.Val265=
ENST00000543555.6:c.597T>G	ENSP00000442697.1:p.Val199=
ENST00000644092.1:c.795T>G	ENSP00000496351.1:p.Val265=
ENST00000645339.1:c.795T>G	ENSP00000496441.1:p.Val265=
ENST00000645506.1:c.795T>G	ENSP00000495455.1:p.Val265=
ENST00000646415.1:c.795T>G	ENSP00000495543.1:p.Val265=
ENST00000233146.6:c.795T>G	ENSP00000233146.2:p.Val265=
ENST00000406134.5:c.795T>G	ENSP00000384199.1:p.Val265=
ENST00000543555.5:c.597T>G	ENSP00000442697.1:p.Val199=
ENST00000610696.4:c.795T>G	ENSP00000483159.1:p.Val265=
ENST00000613514.4:c.795T>G	ENSP00000484137.1:p.Val265=
ENST00000617333.3:c.795T>G	ENSP00000482468.1:p.Val265=
ENST00000617938.4:c.795T>G	ENSP00000481158.1:p.Val265=
ENST00000621359.2:c.795T>G	ENSP00000481416.1:p.Val265=
NM_000251.2:c.795T>G , LRG_218t1:c.795T>G	NP_000242.1:p.Val265=
NM_001258281.1:c.597T>G	NP_001245210.1:p.Val199=
XM_005264332.2:c.795T>G	XP_005264389.2:p.Val265=
XM_011532867.1:c.795T>G	XP_011531169.1:p.Val265=
XR_939685.1:n.867T>G
XM_005264332.4:c.795T>G	XP_005264389.2:p.Val265=
XM_011532867.2:c.795T>G	XP_011531169.1:p.Val265=
XR_001738747.2:n.857T>G
XR_939685.2:n.857T>G
NM_000251.3:c.795T>G MANE Select	NP_000242.1:p.Val265=