Canonical Allele Identifier: CA1030275066

Gene: MSH2

Linked Data

• dbSNP Id: rs1667509284
• gnomAD v3: 2-47480952-GTTGT-G
• gnomAD v4: 2-47480952-GTTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480959_47480962del , CM000664.2:g.47480959_47480962del	GRCh38
NC_000002.11:g.47708098_47708101del , CM000664.1:g.47708098_47708101del	GRCh37
NC_000002.10:g.47561602_47561605del	NCBI36
NG_007110.2:g.82836_82839del , LRG_218:g.82836_82839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+88_2634+91del	ENSP00000495641.2:n.2634+88_2634+91del
ENST00000233146.7:c.2634+88_2634+91del MANE Select	ENSP00000233146.2:n.2634+88_2634+91del
ENST00000543555.6:c.2436+88_2436+91del	ENSP00000442697.1:n.2436+88_2436+91del
ENST00000644092.1:c.*934+88_*934+91del	ENSP00000496351.1:n.*934+88_*934+91del
ENST00000644900.1:c.487+88_487+91del
ENST00000645339.1:c.2634+88_2634+91del	ENSP00000496441.1:n.2634+88_2634+91del
ENST00000645506.1:c.2634+88_2634+91del	ENSP00000495455.1:n.2634+88_2634+91del
ENST00000646415.1:c.2634+88_2634+91del	ENSP00000495543.1:n.2634+88_2634+91del
ENST00000233146.6:c.2634+88_2634+91del	ENSP00000233146.2:n.2634+88_2634+91del
ENST00000406134.5:c.2634+88_2634+91del	ENSP00000384199.1:n.2634+88_2634+91del
ENST00000461394.5:n.75+88_75+91del
ENST00000543555.5:c.2436+88_2436+91del	ENSP00000442697.1:n.2436+88_2436+91del
ENST00000610696.4:c.*1030+88_*1030+91del	ENSP00000483159.1:n.*1030+88_*1030+91del
ENST00000613514.4:c.*1174+88_*1174+91del	ENSP00000484137.1:n.*1174+88_*1174+91del
ENST00000617333.3:c.*1400+88_*1400+91del	ENSP00000482468.1:n.*1400+88_*1400+91del
ENST00000617938.4:c.*1606+88_*1606+91del	ENSP00000481158.1:n.*1606+88_*1606+91del
ENST00000621359.2:c.*200+88_*200+91del	ENSP00000481416.1:n.*200+88_*200+91del
NM_000251.2:c.2634+88_2634+91del , LRG_218t1:c.2634+88_2634+91del	NP_000242.1:n.2634+88_2634+91del
NM_001258281.1:c.2436+88_2436+91del	NP_001245210.1:n.2436+88_2436+91del
XM_005264332.2:c.2634+88_2634+91del	XP_005264389.2:n.2634+88_2634+91del
XM_011532867.1:c.2634+88_2634+91del	XP_011531169.1:n.2634+88_2634+91del
XR_939685.1:n.2706+88_2706+91del
XM_005264332.4:c.2634+88_2634+91del	XP_005264389.2:n.2634+88_2634+91del
XM_011532867.2:c.2634+88_2634+91del	XP_011531169.1:n.2634+88_2634+91del
XR_001738747.2:n.2696+88_2696+91del
XR_939685.2:n.2696+88_2696+91del
NM_000251.3:c.2634+88_2634+91del MANE Select	NP_000242.1:n.2634+88_2634+91del