Canonical Allele Identifier: CA769439643

Gene: MSH2

Linked Data

• dbSNP Id: rs1385517880
• gnomAD v3: 2-47482617-GGCAACATA-G
• gnomAD v4: 2-47482617-GGCAACATA-G
• MyVariant Identifiers: chr2:g.47709757_47709764del (hg19) ; chr2:g.47482618_47482625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482619_47482626del , CM000664.2:g.47482619_47482626del	GRCh38
NC_000002.11:g.47709758_47709765del , CM000664.1:g.47709758_47709765del	GRCh37
NC_000002.10:g.47563262_47563269del	NCBI36
NG_007110.2:g.84496_84503del , LRG_218:g.84496_84503del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1748_2634+1755del	ENSP00000495641.2:n.2634+1748_2634+1755del
ENST00000233146.7:c.2635-160_2635-153del MANE Select	ENSP00000233146.2:n.2635-160_2635-153del
ENST00000543555.6:c.2437-160_2437-153del	ENSP00000442697.1:n.2437-160_2437-153del
ENST00000644092.1:c.*934+1748_*934+1755del	ENSP00000496351.1:n.*934+1748_*934+1755del
ENST00000644900.1:c.487+1748_487+1755del
ENST00000645339.1:c.2634+1748_2634+1755del	ENSP00000496441.1:n.2634+1748_2634+1755del
ENST00000645506.1:c.2634+1748_2634+1755del	ENSP00000495455.1:n.2634+1748_2634+1755del
ENST00000646415.1:c.2634+1748_2634+1755del	ENSP00000495543.1:n.2634+1748_2634+1755del
ENST00000233146.6:c.2635-160_2635-153del	ENSP00000233146.2:n.2635-160_2635-153del
ENST00000406134.5:c.2634+1748_2634+1755del	ENSP00000384199.1:n.2634+1748_2634+1755del
ENST00000461394.5:n.75+1748_75+1755del
ENST00000543555.5:c.2437-160_2437-153del	ENSP00000442697.1:n.2437-160_2437-153del
ENST00000610696.4:c.*1031-160_*1031-153del	ENSP00000483159.1:n.*1031-160_*1031-153del
ENST00000613514.4:c.*1175-160_*1175-153del	ENSP00000484137.1:n.*1175-160_*1175-153del
ENST00000617333.3:c.*1401-160_*1401-153del	ENSP00000482468.1:n.*1401-160_*1401-153del
ENST00000617938.4:c.*1607-160_*1607-153del	ENSP00000481158.1:n.*1607-160_*1607-153del
ENST00000621359.2:c.*201-160_*201-153del	ENSP00000481416.1:n.*201-160_*201-153del
NM_000251.2:c.2635-160_2635-153del , LRG_218t1:c.2635-160_2635-153del	NP_000242.1:n.2635-160_2635-153del
NM_001258281.1:c.2437-160_2437-153del	NP_001245210.1:n.2437-160_2437-153del
XM_005264332.2:c.2634+1748_2634+1755del	XP_005264389.2:n.2634+1748_2634+1755del
XM_011532867.1:c.2634+1748_2634+1755del	XP_011531169.1:n.2634+1748_2634+1755del
XR_939685.1:n.2706+1748_2706+1755del
XM_005264332.4:c.2634+1748_2634+1755del	XP_005264389.2:n.2634+1748_2634+1755del
XM_011532867.2:c.2634+1748_2634+1755del	XP_011531169.1:n.2634+1748_2634+1755del
XR_001738747.2:n.2696+1748_2696+1755del
XR_939685.2:n.2696+1748_2696+1755del
NM_000251.3:c.2635-160_2635-153del MANE Select	NP_000242.1:n.2635-160_2635-153del