Canonical Allele Identifier: CA645514871

Gene: MSH2

Linked Data

• COSMIC: COSM330651

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475088_47475092del , CM000664.2:g.47475088_47475092del	GRCh38
NC_000002.11:g.47702227_47702231del , CM000664.1:g.47702227_47702231del	GRCh37
NC_000002.10:g.47555731_47555735del	NCBI36
NG_007110.2:g.76965_76969del , LRG_218:g.76965_76969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1823_1827del	ENSP00000495641.2:p.Phe608SerfsTer?
ENST00000233146.7:c.1823_1827del MANE Select	ENSP00000233146.2:p.Phe608SerfsTer?
ENST00000543555.6:c.1625_1629del	ENSP00000442697.1:p.Phe542SerfsTer?
ENST00000644092.1:c.*123_*127del	ENSP00000496351.1:n.*123_*127del
ENST00000645339.1:c.1823_1827del	ENSP00000496441.1:p.Phe608SerfsTer?
ENST00000645506.1:c.1823_1827del	ENSP00000495455.1:p.Phe608SerfsTer?
ENST00000646415.1:c.1823_1827del	ENSP00000495543.1:p.Phe608SerfsTer?
ENST00000233146.6:c.1823_1827del	ENSP00000233146.2:p.Phe608SerfsTer?
ENST00000406134.5:c.1823_1827del	ENSP00000384199.1:p.Phe608SerfsTer?
ENST00000543555.5:c.1625_1629del	ENSP00000442697.1:p.Phe542SerfsTer?
ENST00000610696.4:c.*219_*223del	ENSP00000483159.1:n.*219_*223del
ENST00000613514.4:c.*363_*367del	ENSP00000484137.1:n.*363_*367del
ENST00000617333.3:c.*589_*593del	ENSP00000482468.1:n.*589_*593del
ENST00000617938.4:c.*795_*799del	ENSP00000481158.1:n.*795_*799del
ENST00000621359.2:c.1823_1827del	ENSP00000481416.1:p.Phe608SerfsTer?
NM_000251.2:c.1823_1827del , LRG_218t1:c.1823_1827del	NP_000242.1:p.Phe608SerfsTer?
NM_001258281.1:c.1625_1629del	NP_001245210.1:p.Phe542SerfsTer?
XM_005264332.2:c.1823_1827del	XP_005264389.2:p.Phe608SerfsTer?
XM_011532867.1:c.1823_1827del	XP_011531169.1:p.Phe608SerfsTer?
XR_939685.1:n.1895_1899del
XM_005264332.4:c.1823_1827del	XP_005264389.2:p.Phe608SerfsTer?
XM_011532867.2:c.1823_1827del	XP_011531169.1:p.Phe608SerfsTer?
XR_001738747.2:n.1885_1889del
XR_939685.2:n.1885_1889del
NM_000251.3:c.1823_1827del MANE Select	NP_000242.1:p.Phe608SerfsTer?