Canonical Allele Identifier: CA2739274406

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2833070
• ClinVar RCV Id: RCV003758303

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482855_47482857del , CM000664.2:g.47482855_47482857del	GRCh38
NC_000002.11:g.47709994_47709996del , CM000664.1:g.47709994_47709996del	GRCh37
NC_000002.10:g.47563498_47563500del	NCBI36
NG_007110.2:g.84732_84734del , LRG_218:g.84732_84734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+1984_2634+1986del	ENSP00000495641.2:n.2634+1984_2634+1986del
ENST00000233146.7:c.2711_2713del MANE Select	ENSP00000233146.2:p.Ile904del
ENST00000543555.6:c.2513_2515del	ENSP00000442697.1:p.Ile838del
ENST00000644092.1:c.*934+1984_*934+1986del	ENSP00000496351.1:n.*934+1984_*934+1986del
ENST00000644900.1:c.487+1984_487+1986del
ENST00000645339.1:c.2634+1984_2634+1986del	ENSP00000496441.1:n.2634+1984_2634+1986del
ENST00000645506.1:c.2634+1984_2634+1986del	ENSP00000495455.1:n.2634+1984_2634+1986del
ENST00000646415.1:c.2634+1984_2634+1986del	ENSP00000495543.1:n.2634+1984_2634+1986del
ENST00000233146.6:c.2711_2713del	ENSP00000233146.2:p.Ile904del
ENST00000406134.5:c.2634+1984_2634+1986del	ENSP00000384199.1:n.2634+1984_2634+1986del
ENST00000461394.5:n.75+1984_75+1986del
ENST00000543555.5:c.2513_2515del	ENSP00000442697.1:p.Ile838del
ENST00000610696.4:c.*1107_*1109del	ENSP00000483159.1:n.*1107_*1109del
ENST00000613514.4:c.*1251_*1253del	ENSP00000484137.1:n.*1251_*1253del
ENST00000617333.3:c.*1477_*1479del	ENSP00000482468.1:n.*1477_*1479del
ENST00000617938.4:c.*1683_*1685del	ENSP00000481158.1:n.*1683_*1685del
ENST00000621359.2:c.*277_*279del	ENSP00000481416.1:n.*277_*279del
NM_000251.2:c.2711_2713del , LRG_218t1:c.2711_2713del	NP_000242.1:p.Ile904del
NM_001258281.1:c.2513_2515del	NP_001245210.1:p.Ile838del
XM_005264332.2:c.2634+1984_2634+1986del	XP_005264389.2:n.2634+1984_2634+1986del
XM_011532867.1:c.2634+1984_2634+1986del	XP_011531169.1:n.2634+1984_2634+1986del
XR_939685.1:n.2706+1984_2706+1986del
XM_005264332.4:c.2634+1984_2634+1986del	XP_005264389.2:n.2634+1984_2634+1986del
XM_011532867.2:c.2634+1984_2634+1986del	XP_011531169.1:n.2634+1984_2634+1986del
XR_001738747.2:n.2696+1984_2696+1986del
XR_939685.2:n.2696+1984_2696+1986del
NM_000251.3:c.2711_2713del MANE Select	NP_000242.1:p.Ile904del