Canonical Allele Identifier: CA2586969079

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403324_47403336dup , CM000664.2:g.47403324_47403336dup	GRCh38
NC_000002.11:g.47630463_47630475dup , CM000664.1:g.47630463_47630475dup	GRCh37
NC_000002.10:g.47483967_47483979dup	NCBI36
NG_007110.2:g.5201_5213dup , LRG_218:g.5201_5213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.133_145dup	ENSP00000495641.2:p.Asp49GlyfsTer?
ENST00000233146.7:c.133_145dup MANE Select	ENSP00000233146.2:p.Asp49GlyfsTer?
ENST00000543555.6:c.-30-36_-30-24dup	ENSP00000442697.1:n.-30-36_-30-24dup
ENST00000644092.1:c.133_145dup	ENSP00000496351.1:p.Asp49GlyfsTer?
ENST00000645339.1:c.133_145dup	ENSP00000496441.1:p.Asp49GlyfsTer?
ENST00000645506.1:c.133_145dup	ENSP00000495455.1:p.Asp49GlyfsTer?
ENST00000646415.1:c.133_145dup	ENSP00000495543.1:p.Asp49GlyfsTer?
ENST00000233146.6:c.133_145dup	ENSP00000233146.2:p.Asp49GlyfsTer?
ENST00000406134.5:c.133_145dup	ENSP00000384199.1:p.Asp49GlyfsTer?
ENST00000454849.5:c.-30-36_-30-24dup	ENSP00000411482.1:n.-30-36_-30-24dup
ENST00000543555.5:c.-30-36_-30-24dup	ENSP00000442697.1:n.-30-36_-30-24dup
ENST00000610696.4:c.133_145dup	ENSP00000483159.1:p.Asp49GlyfsTer?
ENST00000613514.4:c.133_145dup	ENSP00000484137.1:p.Asp49GlyfsTer?
ENST00000617333.3:c.133_145dup	ENSP00000482468.1:p.Asp49GlyfsTer?
ENST00000617938.4:c.133_145dup	ENSP00000481158.1:p.Asp49GlyfsTer?
ENST00000621359.2:c.133_145dup	ENSP00000481416.1:p.Asp49GlyfsTer?
NM_000251.2:c.133_145dup , LRG_218t1:c.133_145dup	NP_000242.1:p.Asp49GlyfsTer?
NM_001258281.1:c.-30-36_-30-24dup	NP_001245210.1:n.-30-36_-30-24dup
XM_005264332.2:c.133_145dup	XP_005264389.2:p.Asp49GlyfsTer?
XM_011532867.1:c.133_145dup	XP_011531169.1:p.Asp49GlyfsTer?
XR_939685.1:n.205_217dup
XM_005264332.4:c.133_145dup	XP_005264389.2:p.Asp49GlyfsTer?
XM_011532867.2:c.133_145dup	XP_011531169.1:p.Asp49GlyfsTer?
XR_001738747.2:n.195_207dup
XR_939685.2:n.195_207dup
NM_000251.3:c.133_145dup MANE Select	NP_000242.1:p.Asp49GlyfsTer?