Canonical Allele Identifier: CA2658949808

Gene: MSH2

Linked Data

• gnomAD v4: 2-47482998-AATAGTTTTAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47483001_47483010del , CM000664.2:g.47483001_47483010del	GRCh38
NC_000002.11:g.47710140_47710149del , CM000664.1:g.47710140_47710149del	GRCh37
NC_000002.10:g.47563644_47563653del	NCBI36
NG_007110.2:g.84878_84887del , LRG_218:g.84878_84887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2130_2634+2139del	ENSP00000495641.2:n.2634+2130_2634+2139del
ENST00000233146.7:c.*52_*61del MANE Select	ENSP00000233146.2:n.*52_*61del
ENST00000543555.6:c.*52_*61del	ENSP00000442697.1:n.*52_*61del
ENST00000644092.1:c.*934+2130_*934+2139del	ENSP00000496351.1:n.*934+2130_*934+2139del
ENST00000644900.1:c.487+2130_487+2139del
ENST00000645339.1:c.2634+2130_2634+2139del	ENSP00000496441.1:n.2634+2130_2634+2139del
ENST00000645506.1:c.2634+2130_2634+2139del	ENSP00000495455.1:n.2634+2130_2634+2139del
ENST00000646415.1:c.2634+2130_2634+2139del	ENSP00000495543.1:n.2634+2130_2634+2139del
ENST00000233146.6:c.*52_*61del	ENSP00000233146.2:n.*52_*61del
ENST00000406134.5:c.2634+2130_2634+2139del	ENSP00000384199.1:n.2634+2130_2634+2139del
ENST00000461394.5:n.75+2130_75+2139del
ENST00000543555.5:c.*52_*61del	ENSP00000442697.1:n.*52_*61del
ENST00000610696.4:c.*1253_*1262del	ENSP00000483159.1:n.*1253_*1262del
ENST00000613514.4:c.*1397_*1406del	ENSP00000484137.1:n.*1397_*1406del
ENST00000617333.3:c.*1623_*1632del	ENSP00000482468.1:n.*1623_*1632del
ENST00000617938.4:c.*1829_*1838del	ENSP00000481158.1:n.*1829_*1838del
ENST00000621359.2:c.*423_*432del	ENSP00000481416.1:n.*423_*432del
NM_000251.2:c.*52_*61del , LRG_218t1:c.*52_*61del	NP_000242.1:n.*52_*61del
NM_001258281.1:c.*52_*61del	NP_001245210.1:n.*52_*61del
XM_005264332.2:c.2634+2130_2634+2139del	XP_005264389.2:n.2634+2130_2634+2139del
XM_011532867.1:c.2634+2130_2634+2139del	XP_011531169.1:n.2634+2130_2634+2139del
XR_939685.1:n.2706+2130_2706+2139del
XM_005264332.4:c.2634+2130_2634+2139del	XP_005264389.2:n.2634+2130_2634+2139del
XM_011532867.2:c.2634+2130_2634+2139del	XP_011531169.1:n.2634+2130_2634+2139del
XR_001738747.2:n.2696+2130_2696+2139del
XR_939685.2:n.2696+2130_2696+2139del
NM_000251.3:c.*52_*61del MANE Select	NP_000242.1:n.*52_*61del