Canonical Allele Identifier: CA532344016

Gene: MSH2

Linked Data

• dbSNP Id: rs1296853540
• gnomAD v2: 2-47709763-TAGTG-T
• gnomAD v3: 2-47482624-TAGTG-T
• gnomAD v4: 2-47482624-TAGTG-T
• MyVariant Identifiers: chr2:g.47709764_47709767del (hg19) ; chr2:g.47482625_47482628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482627_47482630del , CM000664.2:g.47482627_47482630del	GRCh38
NC_000002.11:g.47709766_47709769del , CM000664.1:g.47709766_47709769del	GRCh37
NC_000002.10:g.47563270_47563273del	NCBI36
NG_007110.2:g.84504_84507del , LRG_218:g.84504_84507del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1756_2634+1759del	ENSP00000495641.2:n.2634+1756_2634+1759del
ENST00000233146.7:c.2635-152_2635-149del MANE Select	ENSP00000233146.2:n.2635-152_2635-149del
ENST00000543555.6:c.2437-152_2437-149del	ENSP00000442697.1:n.2437-152_2437-149del
ENST00000644092.1:c.*934+1756_*934+1759del	ENSP00000496351.1:n.*934+1756_*934+1759del
ENST00000644900.1:c.487+1756_487+1759del
ENST00000645339.1:c.2634+1756_2634+1759del	ENSP00000496441.1:n.2634+1756_2634+1759del
ENST00000645506.1:c.2634+1756_2634+1759del	ENSP00000495455.1:n.2634+1756_2634+1759del
ENST00000646415.1:c.2634+1756_2634+1759del	ENSP00000495543.1:n.2634+1756_2634+1759del
ENST00000233146.6:c.2635-152_2635-149del	ENSP00000233146.2:n.2635-152_2635-149del
ENST00000406134.5:c.2634+1756_2634+1759del	ENSP00000384199.1:n.2634+1756_2634+1759del
ENST00000461394.5:n.75+1756_75+1759del
ENST00000543555.5:c.2437-152_2437-149del	ENSP00000442697.1:n.2437-152_2437-149del
ENST00000610696.4:c.*1031-152_*1031-149del	ENSP00000483159.1:n.*1031-152_*1031-149del
ENST00000613514.4:c.*1175-152_*1175-149del	ENSP00000484137.1:n.*1175-152_*1175-149del
ENST00000617333.3:c.*1401-152_*1401-149del	ENSP00000482468.1:n.*1401-152_*1401-149del
ENST00000617938.4:c.*1607-152_*1607-149del	ENSP00000481158.1:n.*1607-152_*1607-149del
ENST00000621359.2:c.*201-152_*201-149del	ENSP00000481416.1:n.*201-152_*201-149del
NM_000251.2:c.2635-152_2635-149del , LRG_218t1:c.2635-152_2635-149del	NP_000242.1:n.2635-152_2635-149del
NM_001258281.1:c.2437-152_2437-149del	NP_001245210.1:n.2437-152_2437-149del
XM_005264332.2:c.2634+1756_2634+1759del	XP_005264389.2:n.2634+1756_2634+1759del
XM_011532867.1:c.2634+1756_2634+1759del	XP_011531169.1:n.2634+1756_2634+1759del
XR_939685.1:n.2706+1756_2706+1759del
XM_005264332.4:c.2634+1756_2634+1759del	XP_005264389.2:n.2634+1756_2634+1759del
XM_011532867.2:c.2634+1756_2634+1759del	XP_011531169.1:n.2634+1756_2634+1759del
XR_001738747.2:n.2696+1756_2696+1759del
XR_939685.2:n.2696+1756_2696+1759del
NM_000251.3:c.2635-152_2635-149del MANE Select	NP_000242.1:n.2635-152_2635-149del