Canonical Allele Identifier: CA2580066794

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1742551
• ClinVar RCV Id: RCV002330583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403238_47403251del , CM000664.2:g.47403238_47403251del	GRCh38
NC_000002.11:g.47630377_47630390del , CM000664.1:g.47630377_47630390del	GRCh37
NC_000002.10:g.47483881_47483894del	NCBI36
NG_007110.2:g.5115_5128del , LRG_218:g.5115_5128del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.47_60del	ENSP00000495641.2:p.Glu16AlafsTer?
ENST00000233146.7:c.47_60del MANE Select	ENSP00000233146.2:p.Glu16AlafsTer?
ENST00000543555.6:c.-31+63_-31+76del	ENSP00000442697.1:n.-31+63_-31+76del
ENST00000644092.1:c.47_60del	ENSP00000496351.1:p.Glu16AlafsTer?
ENST00000645339.1:c.47_60del	ENSP00000496441.1:p.Glu16AlafsTer?
ENST00000645506.1:c.47_60del	ENSP00000495455.1:p.Glu16AlafsTer?
ENST00000646415.1:c.47_60del	ENSP00000495543.1:p.Glu16AlafsTer?
ENST00000233146.6:c.47_60del	ENSP00000233146.2:p.Glu16AlafsTer?
ENST00000406134.5:c.47_60del	ENSP00000384199.1:p.Glu16AlafsTer?
ENST00000454849.5:c.-31+63_-31+76del	ENSP00000411482.1:n.-31+63_-31+76del
ENST00000543555.5:c.-31+63_-31+76del	ENSP00000442697.1:n.-31+63_-31+76del
ENST00000610696.4:c.47_60del	ENSP00000483159.1:p.Glu16AlafsTer?
ENST00000613514.4:c.47_60del	ENSP00000484137.1:p.Glu16AlafsTer?
ENST00000617333.3:c.47_60del	ENSP00000482468.1:p.Glu16AlafsTer?
ENST00000617938.4:c.47_60del	ENSP00000481158.1:p.Glu16AlafsTer?
ENST00000621359.2:c.47_60del	ENSP00000481416.1:p.Glu16AlafsTer?
NM_000251.2:c.47_60del , LRG_218t1:c.47_60del	NP_000242.1:p.Glu16AlafsTer?
NM_001258281.1:c.-31+63_-31+76del	NP_001245210.1:n.-31+63_-31+76del
XM_005264332.2:c.47_60del	XP_005264389.2:p.Glu16AlafsTer?
XM_011532867.1:c.47_60del	XP_011531169.1:p.Glu16AlafsTer?
XR_939685.1:n.119_132del
XM_005264332.4:c.47_60del	XP_005264389.2:p.Glu16AlafsTer?
XM_011532867.2:c.47_60del	XP_011531169.1:p.Glu16AlafsTer?
XR_001738747.2:n.109_122del
XR_939685.2:n.109_122del
NM_000251.3:c.47_60del MANE Select	NP_000242.1:p.Glu16AlafsTer?