Canonical Allele Identifier: CA019642

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90828
• ClinVar RCV Id: RCV000076330
• dbSNP Id: rs587779121
• MyVariant Identifiers: chr2:g.47702388_47702389del (hg19) ; chr2:g.47475249_47475250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475249_47475250del , CM000664.2:g.47475249_47475250del	GRCh38
NC_000002.11:g.47702388_47702389del , CM000664.1:g.47702388_47702389del	GRCh37
NC_000002.10:g.47555892_47555893del	NCBI36
NG_007110.2:g.77126_77127del , LRG_218:g.77126_77127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1984_1985del	ENSP00000495641.2:p.Gln662AspfsTer13
ENST00000233146.7:c.1984_1985del MANE Select	ENSP00000233146.2:p.Gln662AspfsTer13
ENST00000543555.6:c.1786_1787del	ENSP00000442697.1:p.Gln596AspfsTer13
ENST00000644092.1:c.*284_*285del	ENSP00000496351.1:n.*284_*285del
ENST00000645339.1:c.1984_1985del	ENSP00000496441.1:p.Gln662AspfsTer13
ENST00000645506.1:c.1984_1985del	ENSP00000495455.1:p.Gln662AspfsTer13
ENST00000646415.1:c.1984_1985del	ENSP00000495543.1:p.Gln662AspfsTer13
ENST00000233146.6:c.1984_1985del	ENSP00000233146.2:p.Gln662AspfsTer13
ENST00000406134.5:c.1984_1985del	ENSP00000384199.1:p.Gln662AspfsTer13
ENST00000543555.5:c.1786_1787del	ENSP00000442697.1:p.Gln596AspfsTer13
ENST00000610696.4:c.*380_*381del	ENSP00000483159.1:n.*380_*381del
ENST00000613514.4:c.*524_*525del	ENSP00000484137.1:n.*524_*525del
ENST00000617333.3:c.*750_*751del	ENSP00000482468.1:n.*750_*751del
ENST00000617938.4:c.*956_*957del	ENSP00000481158.1:n.*956_*957del
ENST00000621359.2:c.1984_1985del	ENSP00000481416.1:p.Gln662AspfsTer13
NM_000251.2:c.1984_1985del , LRG_218t1:c.1984_1985del	NP_000242.1:p.Gln662AspfsTer13
NM_001258281.1:c.1786_1787del	NP_001245210.1:p.Gln596AspfsTer13
XM_005264332.2:c.1984_1985del	XP_005264389.2:p.Gln662AspfsTer13
XM_011532867.1:c.1984_1985del	XP_011531169.1:p.Gln662AspfsTer13
XR_939685.1:n.2056_2057del
XM_005264332.4:c.1984_1985del	XP_005264389.2:p.Gln662AspfsTer13
XM_011532867.2:c.1984_1985del	XP_011531169.1:p.Gln662AspfsTer13
XR_001738747.2:n.2046_2047del
XR_939685.2:n.2046_2047del
NM_000251.3:c.1984_1985del MANE Select	NP_000242.1:p.Gln662AspfsTer13