Canonical Allele Identifier: CA2580067009

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1781399
• ClinVar RCV Id: RCV002413086

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475121_47475122insG , CM000664.2:g.47475121_47475122insG	GRCh38
NC_000002.11:g.47702260_47702261insG , CM000664.1:g.47702260_47702261insG	GRCh37
NC_000002.10:g.47555764_47555765insG	NCBI36
NG_007110.2:g.76998_76999insG , LRG_218:g.76998_76999insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1856_1857insG	ENSP00000495641.2:p.Tyr619Ter
ENST00000233146.7:c.1856_1857insG MANE Select	ENSP00000233146.2:p.Tyr619Ter
ENST00000543555.6:c.1658_1659insG	ENSP00000442697.1:p.Tyr553Ter
ENST00000644092.1:c.*156_*157insG	ENSP00000496351.1:n.*156_*157insG
ENST00000645339.1:c.1856_1857insG	ENSP00000496441.1:p.Tyr619Ter
ENST00000645506.1:c.1856_1857insG	ENSP00000495455.1:p.Tyr619Ter
ENST00000646415.1:c.1856_1857insG	ENSP00000495543.1:p.Tyr619Ter
ENST00000233146.6:c.1856_1857insG	ENSP00000233146.2:p.Tyr619Ter
ENST00000406134.5:c.1856_1857insG	ENSP00000384199.1:p.Tyr619Ter
ENST00000543555.5:c.1658_1659insG	ENSP00000442697.1:p.Tyr553Ter
ENST00000610696.4:c.*252_*253insG	ENSP00000483159.1:n.*252_*253insG
ENST00000613514.4:c.*396_*397insG	ENSP00000484137.1:n.*396_*397insG
ENST00000617333.3:c.*622_*623insG	ENSP00000482468.1:n.*622_*623insG
ENST00000617938.4:c.*828_*829insG	ENSP00000481158.1:n.*828_*829insG
ENST00000621359.2:c.1856_1857insG	ENSP00000481416.1:p.Tyr619Ter
NM_000251.2:c.1856_1857insG , LRG_218t1:c.1856_1857insG	NP_000242.1:p.Tyr619Ter
NM_001258281.1:c.1658_1659insG	NP_001245210.1:p.Tyr553Ter
XM_005264332.2:c.1856_1857insG	XP_005264389.2:p.Tyr619Ter
XM_011532867.1:c.1856_1857insG	XP_011531169.1:p.Tyr619Ter
XR_939685.1:n.1928_1929insG
XM_005264332.4:c.1856_1857insG	XP_005264389.2:p.Tyr619Ter
XM_011532867.2:c.1856_1857insG	XP_011531169.1:p.Tyr619Ter
XR_001738747.2:n.1918_1919insG
XR_939685.2:n.1918_1919insG
NM_000251.3:c.1856_1857insG MANE Select	NP_000242.1:p.Tyr619Ter