Canonical Allele Identifier: CA346730023

Gene: MSH2

Linked Data

• dbSNP Id: rs2104405862
• gnomAD v4: 2-47478425-T-A
• MyVariant Identifiers: chr2:g.47705564T>A (hg19) ; chr2:g.47478425T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478425T>A , CM000664.2:g.47478425T>A	GRCh38
NC_000002.11:g.47705564T>A , CM000664.1:g.47705564T>A	GRCh37
NC_000002.10:g.47559068T>A	NCBI36
NG_007110.2:g.80302T>A , LRG_218:g.80302T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2364T>A	ENSP00000495641.2:p.Thr788=
ENST00000233146.7:c.2364T>A MANE Select	ENSP00000233146.2:p.Thr788=
ENST00000543555.6:c.2166T>A	ENSP00000442697.1:p.Thr722=
ENST00000644092.1:c.*664T>A	ENSP00000496351.1:n.*664T>A
ENST00000644900.1:c.217T>A
ENST00000645339.1:c.2364T>A	ENSP00000496441.1:p.Thr788=
ENST00000645506.1:c.2364T>A	ENSP00000495455.1:p.Thr788=
ENST00000646415.1:c.2364T>A	ENSP00000495543.1:p.Thr788=
ENST00000233146.6:c.2364T>A	ENSP00000233146.2:p.Thr788=
ENST00000406134.5:c.2364T>A	ENSP00000384199.1:p.Thr788=
ENST00000543555.5:c.2166T>A	ENSP00000442697.1:p.Thr722=
ENST00000610696.4:c.*760T>A	ENSP00000483159.1:n.*760T>A
ENST00000613514.4:c.*904T>A	ENSP00000484137.1:n.*904T>A
ENST00000617333.3:c.*1130T>A	ENSP00000482468.1:n.*1130T>A
ENST00000617938.4:c.*1336T>A	ENSP00000481158.1:n.*1336T>A
ENST00000621359.2:c.2363T>A	ENSP00000481416.1:p.Leu788Gln
NM_000251.2:c.2364T>A , LRG_218t1:c.2364T>A	NP_000242.1:p.Thr788=
NM_001258281.1:c.2166T>A	NP_001245210.1:p.Thr722=
XM_005264332.2:c.2364T>A	XP_005264389.2:p.Thr788=
XM_011532867.1:c.2364T>A	XP_011531169.1:p.Thr788=
XR_939685.1:n.2436T>A
XM_005264332.4:c.2364T>A	XP_005264389.2:p.Thr788=
XM_011532867.2:c.2364T>A	XP_011531169.1:p.Thr788=
XR_001738747.2:n.2426T>A
XR_939685.2:n.2426T>A
NM_000251.3:c.2364T>A MANE Select	NP_000242.1:p.Thr788=