Canonical Allele Identifier: CA658822113

Gene: MSH2

Linked Data

• ClinVar Variation Id: 561171
• ClinVar RCV Id: RCV000680197
• dbSNP Id: rs1558466685

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47416399_47416400delinsGC , CM000664.2:g.47416399_47416400delinsGC	GRCh38
NC_000002.11:g.47643538_47643539delinsGC , CM000664.1:g.47643538_47643539delinsGC	GRCh37
NC_000002.10:g.47497042_47497043delinsGC	NCBI36
NG_007110.2:g.18276_18277delinsGC , LRG_218:g.18276_18277delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1046_1047delinsGC	ENSP00000495641.2:p.Pro349Arg
ENST00000233146.7:c.1046_1047delinsGC MANE Select	ENSP00000233146.2:p.Pro349Arg
ENST00000543555.6:c.848_849delinsGC	ENSP00000442697.1:p.Pro283Arg
ENST00000644092.1:c.1046_1047delinsGC	ENSP00000496351.1:p.Pro349Arg
ENST00000645339.1:c.1046_1047delinsGC	ENSP00000496441.1:p.Pro349Arg
ENST00000645506.1:c.1046_1047delinsGC	ENSP00000495455.1:p.Pro349Arg
ENST00000646415.1:c.1046_1047delinsGC	ENSP00000495543.1:p.Pro349Arg
ENST00000233146.6:c.1046_1047delinsGC	ENSP00000233146.2:p.Pro349Arg
ENST00000406134.5:c.1046_1047delinsGC	ENSP00000384199.1:p.Pro349Arg
ENST00000543555.5:c.848_849delinsGC	ENSP00000442697.1:p.Pro283Arg
ENST00000610696.4:c.1046_1047delinsGC	ENSP00000483159.1:p.Pro349Arg
ENST00000613514.4:c.1046_1047delinsGC	ENSP00000484137.1:p.Pro349Arg
ENST00000617333.3:c.1046_1047delinsGC	ENSP00000482468.1:p.Pro349Arg
ENST00000617938.4:c.*18_*19delinsGC	ENSP00000481158.1:n.*18_*19delinsGC
ENST00000621359.2:c.1046_1047delinsGC	ENSP00000481416.1:p.Pro349Arg
NM_000251.2:c.1046_1047delinsGC , LRG_218t1:c.1046_1047delinsGC	NP_000242.1:p.Pro349Arg
NM_001258281.1:c.848_849delinsGC	NP_001245210.1:p.Pro283Arg
XM_005264332.2:c.1046_1047delinsGC	XP_005264389.2:p.Pro349Arg
XM_011532867.1:c.1046_1047delinsGC	XP_011531169.1:p.Pro349Arg
XR_939685.1:n.1118_1119delinsGC
XM_005264332.4:c.1046_1047delinsGC	XP_005264389.2:p.Pro349Arg
XM_011532867.2:c.1046_1047delinsGC	XP_011531169.1:p.Pro349Arg
XR_001738747.2:n.1108_1109delinsGC
XR_939685.2:n.1108_1109delinsGC
NM_000251.3:c.1046_1047delinsGC MANE Select	NP_000242.1:p.Pro349Arg