Canonical Allele Identifier: CA2573134975

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1423542
• ClinVar RCV Id: RCV001928910
• dbSNP Id: rs2104179126

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414394_47414395delinsTT , CM000664.2:g.47414394_47414395delinsTT	GRCh38
NC_000002.11:g.47641533_47641534delinsTT , CM000664.1:g.47641533_47641534delinsTT	GRCh37
NC_000002.10:g.47495037_47495038delinsTT	NCBI36
NG_007110.2:g.16271_16272delinsTT , LRG_218:g.16271_16272delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.918_919delinsTT	ENSP00000495641.2:p.Val307Phe
ENST00000233146.7:c.918_919delinsTT MANE Select	ENSP00000233146.2:p.Val307Phe
ENST00000543555.6:c.720_721delinsTT	ENSP00000442697.1:p.Val241Phe
ENST00000644092.1:c.918_919delinsTT	ENSP00000496351.1:p.Val307Phe
ENST00000645339.1:c.918_919delinsTT	ENSP00000496441.1:p.Val307Phe
ENST00000645506.1:c.918_919delinsTT	ENSP00000495455.1:p.Val307Phe
ENST00000646415.1:c.918_919delinsTT	ENSP00000495543.1:p.Val307Phe
ENST00000233146.6:c.918_919delinsTT	ENSP00000233146.2:p.Val307Phe
ENST00000406134.5:c.918_919delinsTT	ENSP00000384199.1:p.Val307Phe
ENST00000543555.5:c.720_721delinsTT	ENSP00000442697.1:p.Val241Phe
ENST00000610696.4:c.918_919delinsTT	ENSP00000483159.1:p.Val307Phe
ENST00000613514.4:c.918_919delinsTT	ENSP00000484137.1:p.Val307Phe
ENST00000617333.3:c.918_919delinsTT	ENSP00000482468.1:p.Val307Phe
ENST00000617938.4:c.918_919delinsTT	ENSP00000481158.1:p.Val307Phe
ENST00000621359.2:c.918_919delinsTT	ENSP00000481416.1:p.Val307Phe
NM_000251.2:c.918_919delinsTT , LRG_218t1:c.918_919delinsTT	NP_000242.1:p.Val307Phe
NM_001258281.1:c.720_721delinsTT	NP_001245210.1:p.Val241Phe
XM_005264332.2:c.918_919delinsTT	XP_005264389.2:p.Val307Phe
XM_011532867.1:c.918_919delinsTT	XP_011531169.1:p.Val307Phe
XR_939685.1:n.990_991delinsTT
XM_005264332.4:c.918_919delinsTT	XP_005264389.2:p.Val307Phe
XM_011532867.2:c.918_919delinsTT	XP_011531169.1:p.Val307Phe
XR_001738747.2:n.980_981delinsTT
XR_939685.2:n.980_981delinsTT
NM_000251.3:c.918_919delinsTT MANE Select	NP_000242.1:p.Val307Phe