Canonical Allele Identifier: CA019583

Gene: MSH2

Linked Data

• ClinVar Variation Id: 161299
• ClinVar RCV Id: RCV000148637 ; RCV000160596 ; RCV000204646 ; RCV000589876 ; RCV000765671 ; RCV003483522 ; RCV003998170 ; RCV004532666 ; RCV002509245
• dbSNP Id: rs374840361
• gnomAD v2: 2-47702331-G-A
• gnomAD v3: 2-47475192-G-A
• gnomAD v4: 2-47475192-G-A
• MyVariant Identifiers: chr2:g.47702331G>A (hg19) ; chr2:g.47475192G>A (hg38)
• PubMed: PMID:23047549 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475192G>A , CM000664.2:g.47475192G>A	GRCh38
NC_000002.11:g.47702331G>A , CM000664.1:g.47702331G>A	GRCh37
NC_000002.10:g.47555835G>A	NCBI36
NG_007110.2:g.77069G>A , LRG_218:g.77069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1927G>A	ENSP00000495641.2:p.Glu643Lys
ENST00000233146.7:c.1927G>A MANE Select	ENSP00000233146.2:p.Glu643Lys
ENST00000543555.6:c.1729G>A	ENSP00000442697.1:p.Glu577Lys
ENST00000644092.1:c.*227G>A	ENSP00000496351.1:n.*227G>A
ENST00000645339.1:c.1927G>A	ENSP00000496441.1:p.Glu643Lys
ENST00000645506.1:c.1927G>A	ENSP00000495455.1:p.Glu643Lys
ENST00000646415.1:c.1927G>A	ENSP00000495543.1:p.Glu643Lys
ENST00000233146.6:c.1927G>A	ENSP00000233146.2:p.Glu643Lys
ENST00000406134.5:c.1927G>A	ENSP00000384199.1:p.Glu643Lys
ENST00000543555.5:c.1729G>A	ENSP00000442697.1:p.Glu577Lys
ENST00000610696.4:c.*323G>A	ENSP00000483159.1:n.*323G>A
ENST00000613514.4:c.*467G>A	ENSP00000484137.1:n.*467G>A
ENST00000617333.3:c.*693G>A	ENSP00000482468.1:n.*693G>A
ENST00000617938.4:c.*899G>A	ENSP00000481158.1:n.*899G>A
ENST00000621359.2:c.1927G>A	ENSP00000481416.1:p.Glu643Lys
NM_000251.2:c.1927G>A , LRG_218t1:c.1927G>A	NP_000242.1:p.Glu643Lys
NM_001258281.1:c.1729G>A	NP_001245210.1:p.Glu577Lys
XM_005264332.2:c.1927G>A	XP_005264389.2:p.Glu643Lys
XM_011532867.1:c.1927G>A	XP_011531169.1:p.Glu643Lys
XR_939685.1:n.1999G>A
XM_005264332.4:c.1927G>A	XP_005264389.2:p.Glu643Lys
XM_011532867.2:c.1927G>A	XP_011531169.1:p.Glu643Lys
XR_001738747.2:n.1989G>A
XR_939685.2:n.1989G>A
NM_000251.3:c.1927G>A MANE Select	NP_000242.1:p.Glu643Lys