Canonical Allele Identifier: CA2695200771

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673343
• ClinVar RCV Id: RCV003455968

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482789_47482798dup , CM000664.2:g.47482789_47482798dup	GRCh38
NC_000002.11:g.47709928_47709937dup , CM000664.1:g.47709928_47709937dup	GRCh37
NC_000002.10:g.47563432_47563441dup	NCBI36
NG_007110.2:g.84666_84675dup , LRG_218:g.84666_84675dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1918_2634+1927dup	ENSP00000495641.2:n.2634+1918_2634+1927du...
ENST00000233146.7:c.2645_2654dup MANE Select	ENSP00000233146.2:p.Glu886AsnfsTer16
ENST00000543555.6:c.2447_2456dup	ENSP00000442697.1:p.Glu820AsnfsTer16
ENST00000644092.1:c.*934+1918_*934+1927dup	ENSP00000496351.1:n.*934+1918_*934+1927du...
ENST00000644900.1:c.487+1918_487+1927dup
ENST00000645339.1:c.2634+1918_2634+1927dup	ENSP00000496441.1:n.2634+1918_2634+1927du...
ENST00000645506.1:c.2634+1918_2634+1927dup	ENSP00000495455.1:n.2634+1918_2634+1927du...
ENST00000646415.1:c.2634+1918_2634+1927dup	ENSP00000495543.1:n.2634+1918_2634+1927du...
ENST00000233146.6:c.2645_2654dup	ENSP00000233146.2:p.Glu886AsnfsTer16
ENST00000406134.5:c.2634+1918_2634+1927dup	ENSP00000384199.1:n.2634+1918_2634+1927du...
ENST00000461394.5:n.75+1918_75+1927dup
ENST00000543555.5:c.2447_2456dup	ENSP00000442697.1:p.Glu820AsnfsTer16
ENST00000610696.4:c.*1041_*1050dup	ENSP00000483159.1:n.*1041_*1050dup
ENST00000613514.4:c.*1185_*1194dup	ENSP00000484137.1:n.*1185_*1194dup
ENST00000617333.3:c.*1411_*1420dup	ENSP00000482468.1:n.*1411_*1420dup
ENST00000617938.4:c.*1617_*1626dup	ENSP00000481158.1:n.*1617_*1626dup
ENST00000621359.2:c.*211_*220dup	ENSP00000481416.1:n.*211_*220dup
NM_000251.2:c.2645_2654dup , LRG_218t1:c.2645_2654dup	NP_000242.1:p.Glu886AsnfsTer16
NM_001258281.1:c.2447_2456dup	NP_001245210.1:p.Glu820AsnfsTer16
XM_005264332.2:c.2634+1918_2634+1927dup	XP_005264389.2:n.2634+1918_2634+1927dup
XM_011532867.1:c.2634+1918_2634+1927dup	XP_011531169.1:n.2634+1918_2634+1927dup
XR_939685.1:n.2706+1918_2706+1927dup
XM_005264332.4:c.2634+1918_2634+1927dup	XP_005264389.2:n.2634+1918_2634+1927dup
XM_011532867.2:c.2634+1918_2634+1927dup	XP_011531169.1:n.2634+1918_2634+1927dup
XR_001738747.2:n.2696+1918_2696+1927dup
XR_939685.2:n.2696+1918_2696+1927dup
NM_000251.3:c.2645_2654dup MANE Select	NP_000242.1:p.Glu886AsnfsTer16