Canonical Allele Identifier: CA2495872440

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475092_47475108delinsTCACGTGTCAAATGGAG , CM000664.2:g.47475092_47475108delinsTCACGTGTCAAATGGAG	GRCh38
NC_000002.11:g.47702231_47702247delinsTCACGTGTCAAATGGAG , CM000664.1:g.47702231_47702247delinsTCACGTGTCAAATGGAG	GRCh37
NC_000002.10:g.47555735_47555751delinsTCACGTGTCAAATGGAG	NCBI36
NG_007110.2:g.76969_76985delinsTCACGTGTCAAATGGAG , LRG_218:g.76969_76985delinsTCACGTGTCAAATGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1827_1843delinsTCACGTGTCAAATGGAG	ENSP00000495641.2:p.Ala609=
ENST00000233146.7:c.1827_1843delinsTCACGTGTCAAATGGAG MANE Select	ENSP00000233146.2:p.Ala609=
ENST00000543555.6:c.1629_1645delinsTCACGTGTCAAATGGAG	ENSP00000442697.1:p.Ala543=
ENST00000644092.1:c.*127_*143delinsTCACGTGTCAAATGGAG	ENSP00000496351.1:n.*127_*143delinsTCACGTGTCAAATGGAG
ENST00000645339.1:c.1827_1843delinsTCACGTGTCAAATGGAG	ENSP00000496441.1:p.Ala609=
ENST00000645506.1:c.1827_1843delinsTCACGTGTCAAATGGAG	ENSP00000495455.1:p.Ala609=
ENST00000646415.1:c.1827_1843delinsTCACGTGTCAAATGGAG	ENSP00000495543.1:p.Ala609=
ENST00000233146.6:c.1827_1843delinsTCACGTGTCAAATGGAG	ENSP00000233146.2:p.Ala609=
ENST00000406134.5:c.1827_1843delinsTCACGTGTCAAATGGAG	ENSP00000384199.1:p.Ala609=
ENST00000543555.5:c.1629_1645delinsTCACGTGTCAAATGGAG	ENSP00000442697.1:p.Ala543=
ENST00000610696.4:c.*223_*239delinsTCACGTGTCAAATGGAG	ENSP00000483159.1:n.*223_*239delinsTCACGTGTCAAATGGAG
ENST00000613514.4:c.*367_*383delinsTCACGTGTCAAATGGAG	ENSP00000484137.1:n.*367_*383delinsTCACGTGTCAAATGGAG
ENST00000617333.3:c.*593_*609delinsTCACGTGTCAAATGGAG	ENSP00000482468.1:n.*593_*609delinsTCACGTGTCAAATGGAG
ENST00000617938.4:c.*799_*815delinsTCACGTGTCAAATGGAG	ENSP00000481158.1:n.*799_*815delinsTCACGTGTCAAATGGAG
ENST00000621359.2:c.1827_1843delinsTCACGTGTCAAATGGAG	ENSP00000481416.1:p.Ala609=
NM_000251.2:c.1827_1843delinsTCACGTGTCAAATGGAG , LRG_218t1:c.1827_1843delinsTCACGTGTCAAATGGAG	NP_000242.1:p.Ala609=
NM_001258281.1:c.1629_1645delinsTCACGTGTCAAATGGAG	NP_001245210.1:p.Ala543=
XM_005264332.2:c.1827_1843delinsTCACGTGTCAAATGGAG	XP_005264389.2:p.Ala609=
XM_011532867.1:c.1827_1843delinsTCACGTGTCAAATGGAG	XP_011531169.1:p.Ala609=
XR_939685.1:n.1899_1915delinsTCACGTGTCAAATGGAG
XM_005264332.4:c.1827_1843delinsTCACGTGTCAAATGGAG	XP_005264389.2:p.Ala609=
XM_011532867.2:c.1827_1843delinsTCACGTGTCAAATGGAG	XP_011531169.1:p.Ala609=
XR_001738747.2:n.1889_1905delinsTCACGTGTCAAATGGAG
XR_939685.2:n.1889_1905delinsTCACGTGTCAAATGGAG
NM_000251.3:c.1827_1843delinsTCACGTGTCAAATGGAG MANE Select	NP_000242.1:p.Ala609=