Canonical Allele Identifier: CA2586969083

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403394_47403395dup , CM000664.2:g.47403394_47403395dup	GRCh38
NC_000002.11:g.47630533_47630534dup , CM000664.1:g.47630533_47630534dup	GRCh37
NC_000002.10:g.47484037_47484038dup	NCBI36
NG_007110.2:g.5271_5272dup , LRG_218:g.5271_5272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.203_204dup	ENSP00000495641.2:p.Pro69GlyfsTer16
ENST00000233146.7:c.203_204dup MANE Select	ENSP00000233146.2:p.Pro69GlyfsTer16
ENST00000543555.6:c.5_6dup	ENSP00000442697.1:p.Pro3GlyfsTer16
ENST00000644092.1:c.203_204dup	ENSP00000496351.1:p.Pro69GlyfsTer16
ENST00000645339.1:c.203_204dup	ENSP00000496441.1:p.Pro69GlyfsTer16
ENST00000645506.1:c.203_204dup	ENSP00000495455.1:p.Pro69GlyfsTer16
ENST00000646415.1:c.203_204dup	ENSP00000495543.1:p.Pro69GlyfsTer16
ENST00000233146.6:c.203_204dup	ENSP00000233146.2:p.Pro69GlyfsTer16
ENST00000406134.5:c.203_204dup	ENSP00000384199.1:p.Pro69GlyfsTer16
ENST00000454849.5:c.5_6dup	ENSP00000411482.1:p.Pro3GlyfsTer16
ENST00000543555.5:c.5_6dup	ENSP00000442697.1:p.Pro3GlyfsTer16
ENST00000610696.4:c.203_204dup	ENSP00000483159.1:p.Pro69GlyfsTer16
ENST00000613514.4:c.203_204dup	ENSP00000484137.1:p.Pro69GlyfsTer16
ENST00000617333.3:c.203_204dup	ENSP00000482468.1:p.Pro69GlyfsTer16
ENST00000617938.4:c.203_204dup	ENSP00000481158.1:p.Pro69GlyfsTer16
ENST00000621359.2:c.203_204dup	ENSP00000481416.1:p.Pro69GlyfsTer16
NM_000251.2:c.203_204dup , LRG_218t1:c.203_204dup	NP_000242.1:p.Pro69GlyfsTer16
NM_001258281.1:c.5_6dup	NP_001245210.1:p.Pro3GlyfsTer16
XM_005264332.2:c.203_204dup	XP_005264389.2:p.Pro69GlyfsTer16
XM_011532867.1:c.203_204dup	XP_011531169.1:p.Pro69GlyfsTer16
XR_939685.1:n.275_276dup
XM_005264332.4:c.203_204dup	XP_005264389.2:p.Pro69GlyfsTer16
XM_011532867.2:c.203_204dup	XP_011531169.1:p.Pro69GlyfsTer16
XR_001738747.2:n.265_266dup
XR_939685.2:n.265_266dup
NM_000251.3:c.203_204dup MANE Select	NP_000242.1:p.Pro69GlyfsTer16