Canonical Allele Identifier: CA019637

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90827
• ClinVar RCV Id: RCV000076329 ; RCV000202244
• dbSNP Id: rs587779120
• MyVariant Identifiers: chr2:g.47702386_47702389del (hg19) ; chr2:g.47475247_47475250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475247_47475250del , CM000664.2:g.47475247_47475250del	GRCh38
NC_000002.11:g.47702386_47702389del , CM000664.1:g.47702386_47702389del	GRCh37
NC_000002.10:g.47555890_47555893del	NCBI36
NG_007110.2:g.77124_77127del , LRG_218:g.77124_77127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1982_1985del	ENSP00000495641.2:p.Lys661ArgfsTer23
ENST00000233146.7:c.1982_1985del MANE Select	ENSP00000233146.2:p.Lys661ArgfsTer23
ENST00000543555.6:c.1784_1787del	ENSP00000442697.1:p.Lys595ArgfsTer23
ENST00000644092.1:c.*282_*285del	ENSP00000496351.1:n.*282_*285del
ENST00000645339.1:c.1982_1985del	ENSP00000496441.1:p.Lys661ArgfsTer23
ENST00000645506.1:c.1982_1985del	ENSP00000495455.1:p.Lys661ArgfsTer23
ENST00000646415.1:c.1982_1985del	ENSP00000495543.1:p.Lys661ArgfsTer23
ENST00000233146.6:c.1982_1985del	ENSP00000233146.2:p.Lys661ArgfsTer23
ENST00000406134.5:c.1982_1985del	ENSP00000384199.1:p.Lys661ArgfsTer23
ENST00000543555.5:c.1784_1787del	ENSP00000442697.1:p.Lys595ArgfsTer23
ENST00000610696.4:c.*378_*381del	ENSP00000483159.1:n.*378_*381del
ENST00000613514.4:c.*522_*525del	ENSP00000484137.1:n.*522_*525del
ENST00000617333.3:c.*748_*751del	ENSP00000482468.1:n.*748_*751del
ENST00000617938.4:c.*954_*957del	ENSP00000481158.1:n.*954_*957del
ENST00000621359.2:c.1982_1985del	ENSP00000481416.1:p.Lys661ArgfsTer23
NM_000251.2:c.1982_1985del , LRG_218t1:c.1982_1985del	NP_000242.1:p.Lys661ArgfsTer23
NM_001258281.1:c.1784_1787del	NP_001245210.1:p.Lys595ArgfsTer23
XM_005264332.2:c.1982_1985del	XP_005264389.2:p.Lys661ArgfsTer23
XM_011532867.1:c.1982_1985del	XP_011531169.1:p.Lys661ArgfsTer23
XR_939685.1:n.2054_2057del
XM_005264332.4:c.1982_1985del	XP_005264389.2:p.Lys661ArgfsTer23
XM_011532867.2:c.1982_1985del	XP_011531169.1:p.Lys661ArgfsTer23
XR_001738747.2:n.2044_2047del
XR_939685.2:n.2044_2047del
NM_000251.3:c.1982_1985del MANE Select	NP_000242.1:p.Lys661ArgfsTer23