Canonical Allele Identifier: CA2495870098

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470970_47470971delinsTG , CM000664.2:g.47470970_47470971delinsTG	GRCh38
NC_000002.11:g.47698109_47698110delinsTG , CM000664.1:g.47698109_47698110delinsTG	GRCh37
NC_000002.10:g.47551613_47551614delinsTG	NCBI36
NG_007110.2:g.72847_72848delinsTG , LRG_218:g.72847_72848delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1667_1668delinsTG	ENSP00000495641.2:p.Leu556=
ENST00000233146.7:c.1667_1668delinsTG MANE Select	ENSP00000233146.2:p.Leu556=
ENST00000543555.6:c.1469_1470delinsTG	ENSP00000442697.1:p.Leu490=
ENST00000644092.1:c.1662-18_1662-17delinsTG	ENSP00000496351.1:n.1662-18_1662-17delins...
ENST00000645339.1:c.1667_1668delinsTG	ENSP00000496441.1:p.Leu556=
ENST00000645506.1:c.1667_1668delinsTG	ENSP00000495455.1:p.Leu556=
ENST00000646415.1:c.1667_1668delinsTG	ENSP00000495543.1:p.Leu556=
ENST00000233146.6:c.1667_1668delinsTG	ENSP00000233146.2:p.Leu556=
ENST00000406134.5:c.1667_1668delinsTG	ENSP00000384199.1:p.Leu556=
ENST00000543555.5:c.1469_1470delinsTG	ENSP00000442697.1:p.Leu490=
ENST00000610696.4:c.*63_*64delinsTG	ENSP00000483159.1:n.*63_*64delinsTG
ENST00000613514.4:c.*207_*208delinsTG	ENSP00000484137.1:n.*207_*208delinsTG
ENST00000617333.3:c.*433_*434delinsTG	ENSP00000482468.1:n.*433_*434delinsTG
ENST00000617938.4:c.*639_*640delinsTG	ENSP00000481158.1:n.*639_*640delinsTG
ENST00000621359.2:c.1667_1668delinsTG	ENSP00000481416.1:p.Leu556=
NM_000251.2:c.1667_1668delinsTG , LRG_218t1:c.1667_1668delinsTG	NP_000242.1:p.Leu556=
NM_001258281.1:c.1469_1470delinsTG	NP_001245210.1:p.Leu490=
XM_005264332.2:c.1667_1668delinsTG	XP_005264389.2:p.Leu556=
XM_011532867.1:c.1667_1668delinsTG	XP_011531169.1:p.Leu556=
XR_939685.1:n.1739_1740delinsTG
XM_005264332.4:c.1667_1668delinsTG	XP_005264389.2:p.Leu556=
XM_011532867.2:c.1667_1668delinsTG	XP_011531169.1:p.Leu556=
XR_001738747.2:n.1729_1730delinsTG
XR_939685.2:n.1729_1730delinsTG
NM_000251.3:c.1667_1668delinsTG MANE Select	NP_000242.1:p.Leu556=