Canonical Allele Identifier: CA2580067000

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1781146
• ClinVar RCV Id: RCV002412833

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475105_47475106delinsA , CM000664.2:g.47475105_47475106delinsA	GRCh38
NC_000002.11:g.47702244_47702245delinsA , CM000664.1:g.47702244_47702245delinsA	GRCh37
NC_000002.10:g.47555748_47555749delinsA	NCBI36
NG_007110.2:g.76982_76983delinsA , LRG_218:g.76982_76983delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1840_1841delinsA	ENSP00000495641.2:p.Gly614LysfsTer21
ENST00000233146.7:c.1840_1841delinsA MANE Select	ENSP00000233146.2:p.Gly614LysfsTer21
ENST00000543555.6:c.1642_1643delinsA	ENSP00000442697.1:p.Gly548LysfsTer21
ENST00000644092.1:c.*140_*141delinsA	ENSP00000496351.1:n.*140_*141delinsA
ENST00000645339.1:c.1840_1841delinsA	ENSP00000496441.1:p.Gly614LysfsTer21
ENST00000645506.1:c.1840_1841delinsA	ENSP00000495455.1:p.Gly614LysfsTer21
ENST00000646415.1:c.1840_1841delinsA	ENSP00000495543.1:p.Gly614LysfsTer21
ENST00000233146.6:c.1840_1841delinsA	ENSP00000233146.2:p.Gly614LysfsTer21
ENST00000406134.5:c.1840_1841delinsA	ENSP00000384199.1:p.Gly614LysfsTer21
ENST00000543555.5:c.1642_1643delinsA	ENSP00000442697.1:p.Gly548LysfsTer21
ENST00000610696.4:c.*236_*237delinsA	ENSP00000483159.1:n.*236_*237delinsA
ENST00000613514.4:c.*380_*381delinsA	ENSP00000484137.1:n.*380_*381delinsA
ENST00000617333.3:c.*606_*607delinsA	ENSP00000482468.1:n.*606_*607delinsA
ENST00000617938.4:c.*812_*813delinsA	ENSP00000481158.1:n.*812_*813delinsA
ENST00000621359.2:c.1840_1841delinsA	ENSP00000481416.1:p.Gly614LysfsTer21
NM_000251.2:c.1840_1841delinsA , LRG_218t1:c.1840_1841delinsA	NP_000242.1:p.Gly614LysfsTer21
NM_001258281.1:c.1642_1643delinsA	NP_001245210.1:p.Gly548LysfsTer21
XM_005264332.2:c.1840_1841delinsA	XP_005264389.2:p.Gly614LysfsTer21
XM_011532867.1:c.1840_1841delinsA	XP_011531169.1:p.Gly614LysfsTer21
XR_939685.1:n.1912_1913delinsA
XM_005264332.4:c.1840_1841delinsA	XP_005264389.2:p.Gly614LysfsTer21
XM_011532867.2:c.1840_1841delinsA	XP_011531169.1:p.Gly614LysfsTer21
XR_001738747.2:n.1902_1903delinsA
XR_939685.2:n.1902_1903delinsA
NM_000251.3:c.1840_1841delinsA MANE Select	NP_000242.1:p.Gly614LysfsTer21