Canonical Allele Identifier: CA2495869899

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471041_47471042delinsGA , CM000664.2:g.47471041_47471042delinsGA	GRCh38
NC_000002.11:g.47698180_47698181delinsGA , CM000664.1:g.47698180_47698181delinsGA	GRCh37
NC_000002.10:g.47551684_47551685delinsGA	NCBI36
NG_007110.2:g.72918_72919delinsGA , LRG_218:g.72918_72919delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1738_1739delinsGA	ENSP00000495641.2:p.Glu580=
ENST00000233146.7:c.1738_1739delinsGA MANE Select	ENSP00000233146.2:p.Glu580=
ENST00000543555.6:c.1540_1541delinsGA	ENSP00000442697.1:p.Glu514=
ENST00000644092.1:c.*38_*39delinsGA	ENSP00000496351.1:n.*38_*39delinsGA
ENST00000645339.1:c.1738_1739delinsGA	ENSP00000496441.1:p.Glu580=
ENST00000645506.1:c.1738_1739delinsGA	ENSP00000495455.1:p.Glu580=
ENST00000646415.1:c.1738_1739delinsGA	ENSP00000495543.1:p.Glu580=
ENST00000233146.6:c.1738_1739delinsGA	ENSP00000233146.2:p.Glu580=
ENST00000406134.5:c.1738_1739delinsGA	ENSP00000384199.1:p.Glu580=
ENST00000543555.5:c.1540_1541delinsGA	ENSP00000442697.1:p.Glu514=
ENST00000610696.4:c.*134_*135delinsGA	ENSP00000483159.1:n.*134_*135delinsGA
ENST00000613514.4:c.*278_*279delinsGA	ENSP00000484137.1:n.*278_*279delinsGA
ENST00000617333.3:c.*504_*505delinsGA	ENSP00000482468.1:n.*504_*505delinsGA
ENST00000617938.4:c.*710_*711delinsGA	ENSP00000481158.1:n.*710_*711delinsGA
ENST00000621359.2:c.1738_1739delinsGA	ENSP00000481416.1:p.Glu580=
NM_000251.2:c.1738_1739delinsGA , LRG_218t1:c.1738_1739delinsGA	NP_000242.1:p.Glu580=
NM_001258281.1:c.1540_1541delinsGA	NP_001245210.1:p.Glu514=
XM_005264332.2:c.1738_1739delinsGA	XP_005264389.2:p.Glu580=
XM_011532867.1:c.1738_1739delinsGA	XP_011531169.1:p.Glu580=
XR_939685.1:n.1810_1811delinsGA
XM_005264332.4:c.1738_1739delinsGA	XP_005264389.2:p.Glu580=
XM_011532867.2:c.1738_1739delinsGA	XP_011531169.1:p.Glu580=
XR_001738747.2:n.1800_1801delinsGA
XR_939685.2:n.1800_1801delinsGA
NM_000251.3:c.1738_1739delinsGA MANE Select	NP_000242.1:p.Glu580=