Canonical Allele Identifier: CA2580066864

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1755577
• ClinVar RCV Id: RCV002369545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412449_47412457delinsGAAAAAGG , CM000664.2:g.47412449_47412457delinsGAAAAAGG	GRCh38
NC_000002.11:g.47639588_47639596delinsGAAAAAGG , CM000664.1:g.47639588_47639596delinsGAAAAAGG	GRCh37
NC_000002.10:g.47493092_47493100delinsGAAAAAGG	NCBI36
NG_007110.2:g.14326_14334delinsGAAAAAGG , LRG_218:g.14326_14334delinsGAAAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.681_689delinsGAAAAAGG	ENSP00000495641.2:p.Ala230ValfsTer16
ENST00000233146.7:c.681_689delinsGAAAAAGG MANE Select	ENSP00000233146.2:p.Ala230ValfsTer16
ENST00000543555.6:c.483_491delinsGAAAAAGG	ENSP00000442697.1:p.Ala164ValfsTer16
ENST00000644092.1:c.681_689delinsGAAAAAGG	ENSP00000496351.1:p.Ala230ValfsTer16
ENST00000645339.1:c.681_689delinsGAAAAAGG	ENSP00000496441.1:p.Ala230ValfsTer16
ENST00000645506.1:c.681_689delinsGAAAAAGG	ENSP00000495455.1:p.Ala230ValfsTer16
ENST00000646415.1:c.681_689delinsGAAAAAGG	ENSP00000495543.1:p.Ala230ValfsTer16
ENST00000233146.6:c.681_689delinsGAAAAAGG	ENSP00000233146.2:p.Ala230ValfsTer16
ENST00000406134.5:c.681_689delinsGAAAAAGG	ENSP00000384199.1:p.Ala230ValfsTer16
ENST00000543555.5:c.483_491delinsGAAAAAGG	ENSP00000442697.1:p.Ala164ValfsTer16
ENST00000610696.4:c.681_689delinsGAAAAAGG	ENSP00000483159.1:p.Ala230ValfsTer16
ENST00000613514.4:c.681_689delinsGAAAAAGG	ENSP00000484137.1:p.Ala230ValfsTer16
ENST00000617333.3:c.681_689delinsGAAAAAGG	ENSP00000482468.1:p.Ala230ValfsTer16
ENST00000617938.4:c.681_689delinsGAAAAAGG	ENSP00000481158.1:p.Ala230ValfsTer16
ENST00000621359.2:c.681_689delinsGAAAAAGG	ENSP00000481416.1:p.Ala230ValfsTer16
NM_000251.2:c.681_689delinsGAAAAAGG , LRG_218t1:c.681_689delinsGAAAAAGG	NP_000242.1:p.Ala230ValfsTer16
NM_001258281.1:c.483_491delinsGAAAAAGG	NP_001245210.1:p.Ala164ValfsTer16
XM_005264332.2:c.681_689delinsGAAAAAGG	XP_005264389.2:p.Ala230ValfsTer16
XM_011532867.1:c.681_689delinsGAAAAAGG	XP_011531169.1:p.Ala230ValfsTer16
XR_939685.1:n.753_761delinsGAAAAAGG
XM_005264332.4:c.681_689delinsGAAAAAGG	XP_005264389.2:p.Ala230ValfsTer16
XM_011532867.2:c.681_689delinsGAAAAAGG	XP_011531169.1:p.Ala230ValfsTer16
XR_001738747.2:n.743_751delinsGAAAAAGG
XR_939685.2:n.743_751delinsGAAAAAGG
NM_000251.3:c.681_689delinsGAAAAAGG MANE Select	NP_000242.1:p.Ala230ValfsTer16