Canonical Allele Identifier: CA2695200493

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673455
• ClinVar RCV Id: RCV003450177

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478458_47478461del , CM000664.2:g.47478458_47478461del	GRCh38
NC_000002.11:g.47705597_47705600del , CM000664.1:g.47705597_47705600del	GRCh37
NC_000002.10:g.47559101_47559104del	NCBI36
NG_007110.2:g.80335_80338del , LRG_218:g.80335_80338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2397_2400del	ENSP00000495641.2:p.Leu800MetfsTer11
ENST00000233146.7:c.2397_2400del MANE Select	ENSP00000233146.2:p.Leu800MetfsTer11
ENST00000543555.6:c.2199_2202del	ENSP00000442697.1:p.Leu734MetfsTer11
ENST00000644092.1:c.*697_*700del	ENSP00000496351.1:n.*697_*700del
ENST00000644900.1:c.250_253del
ENST00000645339.1:c.2397_2400del	ENSP00000496441.1:p.Leu800MetfsTer11
ENST00000645506.1:c.2397_2400del	ENSP00000495455.1:p.Leu800MetfsTer11
ENST00000646415.1:c.2397_2400del	ENSP00000495543.1:p.Leu800MetfsTer11
ENST00000233146.6:c.2397_2400del	ENSP00000233146.2:p.Leu800MetfsTer11
ENST00000406134.5:c.2397_2400del	ENSP00000384199.1:p.Leu800MetfsTer11
ENST00000543555.5:c.2199_2202del	ENSP00000442697.1:p.Leu734MetfsTer11
ENST00000610696.4:c.*793_*796del	ENSP00000483159.1:n.*793_*796del
ENST00000613514.4:c.*937_*940del	ENSP00000484137.1:n.*937_*940del
ENST00000617333.3:c.*1163_*1166del	ENSP00000482468.1:n.*1163_*1166del
ENST00000617938.4:c.*1369_*1372del	ENSP00000481158.1:n.*1369_*1372del
ENST00000621359.2:c.2396_2399del	ENSP00000481416.1:p.Ile799ThrfsTer8
NM_000251.2:c.2397_2400del , LRG_218t1:c.2397_2400del	NP_000242.1:p.Leu800MetfsTer11
NM_001258281.1:c.2199_2202del	NP_001245210.1:p.Leu734MetfsTer11
XM_005264332.2:c.2397_2400del	XP_005264389.2:p.Leu800MetfsTer11
XM_011532867.1:c.2397_2400del	XP_011531169.1:p.Leu800MetfsTer11
XR_939685.1:n.2469_2472del
XM_005264332.4:c.2397_2400del	XP_005264389.2:p.Leu800MetfsTer11
XM_011532867.2:c.2397_2400del	XP_011531169.1:p.Leu800MetfsTer11
XR_001738747.2:n.2459_2462del
XR_939685.2:n.2459_2462del
NM_000251.3:c.2397_2400del MANE Select	NP_000242.1:p.Leu800MetfsTer11