Canonical Allele Identifier: CA331207

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90506
• ClinVar RCV Id: RCV000076001 ; RCV001353842 ; RCV003315596
• dbSNP Id: rs63750703
• MyVariant Identifiers: chr2:g.47643510dupA (hg19) ; chr2:g.47416371dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47416371dup , CM000664.2:g.47416371dup	GRCh38
NC_000002.11:g.47643510dup , CM000664.1:g.47643510dup	GRCh37
NC_000002.10:g.47497014dup	NCBI36
NG_007110.2:g.18248dup , LRG_218:g.18248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1018dup	ENSP00000495641.2:p.Arg340LysfsTer4
ENST00000233146.7:c.1018dup MANE Select	ENSP00000233146.2:p.Arg340LysfsTer4
ENST00000543555.6:c.820dup	ENSP00000442697.1:p.Arg274LysfsTer4
ENST00000644092.1:c.1018dup	ENSP00000496351.1:p.Arg340LysfsTer4
ENST00000645339.1:c.1018dup	ENSP00000496441.1:p.Arg340LysfsTer4
ENST00000645506.1:c.1018dup	ENSP00000495455.1:p.Arg340LysfsTer4
ENST00000646415.1:c.1018dup	ENSP00000495543.1:p.Arg340LysfsTer4
ENST00000233146.6:c.1018dup	ENSP00000233146.2:p.Arg340LysfsTer4
ENST00000406134.5:c.1018dup	ENSP00000384199.1:p.Arg340LysfsTer4
ENST00000543555.5:c.820dup	ENSP00000442697.1:p.Arg274LysfsTer4
ENST00000610696.4:c.1018dup	ENSP00000483159.1:p.Arg340LysfsTer4
ENST00000613514.4:c.1018dup	ENSP00000484137.1:p.Arg340LysfsTer4
ENST00000617333.3:c.1018dup	ENSP00000482468.1:p.Arg340LysfsTer4
ENST00000617938.4:c.1018-2dup
ENST00000621359.2:c.1018dup	ENSP00000481416.1:p.Arg340LysfsTer4
NM_000251.2:c.1018dup , LRG_218t1:c.1018dup	NP_000242.1:p.Arg340LysfsTer4
NM_001258281.1:c.820dup	NP_001245210.1:p.Arg274LysfsTer4
XM_005264332.2:c.1018dup	XP_005264389.2:p.Arg340LysfsTer4
XM_011532867.1:c.1018dup	XP_011531169.1:p.Arg340LysfsTer4
XR_939685.1:n.1090dup
XM_005264332.4:c.1018dup	XP_005264389.2:p.Arg340LysfsTer4
XM_011532867.2:c.1018dup	XP_011531169.1:p.Arg340LysfsTer4
XR_001738747.2:n.1080dup
XR_939685.2:n.1080dup
NM_000251.3:c.1018dup MANE Select	NP_000242.1:p.Arg340LysfsTer4