Canonical Allele Identifier: CA2586964897

Gene: MSH2

Linked Data

• ClinVar Variation Id: 3065320
• ClinVar RCV Id: RCV003990397

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478323_47478328del , CM000664.2:g.47478323_47478328del	GRCh38
NC_000002.11:g.47705462_47705467del , CM000664.1:g.47705462_47705467del	GRCh37
NC_000002.10:g.47558966_47558971del	NCBI36
NG_007110.2:g.80200_80205del , LRG_218:g.80200_80205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2262_2267del	ENSP00000495641.2:p.Ser755_Thr756del
ENST00000233146.7:c.2262_2267del MANE Select	ENSP00000233146.2:p.Ser755_Thr756del
ENST00000543555.6:c.2064_2069del	ENSP00000442697.1:p.Ser689_Thr690del
ENST00000644092.1:c.*562_*567del	ENSP00000496351.1:n.*562_*567del
ENST00000644900.1:c.115_120del
ENST00000645339.1:c.2262_2267del	ENSP00000496441.1:p.Ser755_Thr756del
ENST00000645506.1:c.2262_2267del	ENSP00000495455.1:p.Ser755_Thr756del
ENST00000646415.1:c.2262_2267del	ENSP00000495543.1:p.Ser755_Thr756del
ENST00000233146.6:c.2262_2267del	ENSP00000233146.2:p.Ser755_Thr756del
ENST00000406134.5:c.2262_2267del	ENSP00000384199.1:p.Ser755_Thr756del
ENST00000543555.5:c.2064_2069del	ENSP00000442697.1:p.Ser689_Thr690del
ENST00000610696.4:c.*658_*663del	ENSP00000483159.1:n.*658_*663del
ENST00000613514.4:c.*802_*807del	ENSP00000484137.1:n.*802_*807del
ENST00000617333.3:c.*1028_*1033del	ENSP00000482468.1:n.*1028_*1033del
ENST00000617938.4:c.*1234_*1239del	ENSP00000481158.1:n.*1234_*1239del
ENST00000621359.2:c.2262_2267del	ENSP00000481416.1:p.Ser755_Thr756del
NM_000251.2:c.2262_2267del , LRG_218t1:c.2262_2267del	NP_000242.1:p.Ser755_Thr756del
NM_001258281.1:c.2064_2069del	NP_001245210.1:p.Ser689_Thr690del
XM_005264332.2:c.2262_2267del	XP_005264389.2:p.Ser755_Thr756del
XM_011532867.1:c.2262_2267del	XP_011531169.1:p.Ser755_Thr756del
XR_939685.1:n.2334_2339del
XM_005264332.4:c.2262_2267del	XP_005264389.2:p.Ser755_Thr756del
XM_011532867.2:c.2262_2267del	XP_011531169.1:p.Ser755_Thr756del
XR_001738747.2:n.2324_2329del
XR_939685.2:n.2324_2329del
NM_000251.3:c.2262_2267del MANE Select	NP_000242.1:p.Ser755_Thr756del