Canonical Allele Identifier: CA658655775

Gene: MSH2

Linked Data

• ClinVar Variation Id: 455568
• ClinVar RCV Id: RCV000551281
• dbSNP Id: rs1553370371
• MyVariant Identifiers: chr2:g.47707908dup (hg19) ; chr2:g.47480769dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480769dup , CM000664.2:g.47480769dup	GRCh38
NC_000002.11:g.47707908dup , CM000664.1:g.47707908dup	GRCh37
NC_000002.10:g.47561412dup	NCBI36
NG_007110.2:g.82646dup , LRG_218:g.82646dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2532dup	ENSP00000495641.2:p.Lys845Ter
ENST00000233146.7:c.2532dup MANE Select	ENSP00000233146.2:p.Lys845Ter
ENST00000543555.6:c.2334dup	ENSP00000442697.1:p.Lys779Ter
ENST00000644092.1:c.*832dup	ENSP00000496351.1:n.*832dup
ENST00000644900.1:c.385dup
ENST00000645339.1:c.2532dup	ENSP00000496441.1:p.Lys845Ter
ENST00000645506.1:c.2532dup	ENSP00000495455.1:p.Lys845Ter
ENST00000646415.1:c.2532dup	ENSP00000495543.1:p.Lys845Ter
ENST00000233146.6:c.2532dup	ENSP00000233146.2:p.Lys845Ter
ENST00000406134.5:c.2532dup	ENSP00000384199.1:p.Lys845Ter
ENST00000543555.5:c.2334dup	ENSP00000442697.1:p.Lys779Ter
ENST00000610696.4:c.*928dup	ENSP00000483159.1:n.*928dup
ENST00000613514.4:c.*1072dup	ENSP00000484137.1:n.*1072dup
ENST00000617333.3:c.*1298dup	ENSP00000482468.1:n.*1298dup
ENST00000617938.4:c.*1504dup	ENSP00000481158.1:n.*1504dup
ENST00000621359.2:c.*98dup	ENSP00000481416.1:n.*98dup
NM_000251.2:c.2532dup , LRG_218t1:c.2532dup	NP_000242.1:p.Lys845Ter
NM_001258281.1:c.2334dup	NP_001245210.1:p.Lys779Ter
XM_005264332.2:c.2532dup	XP_005264389.2:p.Lys845Ter
XM_011532867.1:c.2532dup	XP_011531169.1:p.Lys845Ter
XR_939685.1:n.2604dup
XM_005264332.4:c.2532dup	XP_005264389.2:p.Lys845Ter
XM_011532867.2:c.2532dup	XP_011531169.1:p.Lys845Ter
XR_001738747.2:n.2594dup
XR_939685.2:n.2594dup
NM_000251.3:c.2532dup MANE Select	NP_000242.1:p.Lys845Ter