Canonical Allele Identifier: CA020519

Gene: MSH2

Linked Data

• ClinVar Variation Id: 143010
• ClinVar RCV Id: RCV000132529 ; RCV000409026 ; RCV000540856 ; RCV001354926
• dbSNP Id: rs587782891
• ExAC: 2:47705575 A / G
• gnomAD v2: 2-47705575-A-G
• gnomAD v3: 2-47478436-A-G
• gnomAD v4: 2-47478436-A-G
• MyVariant Identifiers: chr2:g.47705575A>G (hg19) ; chr2:g.47478436A>G (hg38)
• PubMed: PMID:24362816

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478436A>G , CM000664.2:g.47478436A>G	GRCh38
NC_000002.11:g.47705575A>G , CM000664.1:g.47705575A>G	GRCh37
NC_000002.10:g.47559079A>G	NCBI36
NG_007110.2:g.80313A>G , LRG_218:g.80313A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2375A>G	ENSP00000495641.2:p.Asn792Ser
ENST00000233146.7:c.2375A>G MANE Select	ENSP00000233146.2:p.Asn792Ser
ENST00000543555.6:c.2177A>G	ENSP00000442697.1:p.Asn726Ser
ENST00000644092.1:c.*675A>G	ENSP00000496351.1:n.*675A>G
ENST00000644900.1:c.228A>G
ENST00000645339.1:c.2375A>G	ENSP00000496441.1:p.Asn792Ser
ENST00000645506.1:c.2375A>G	ENSP00000495455.1:p.Asn792Ser
ENST00000646415.1:c.2375A>G	ENSP00000495543.1:p.Asn792Ser
ENST00000233146.6:c.2375A>G	ENSP00000233146.2:p.Asn792Ser
ENST00000406134.5:c.2375A>G	ENSP00000384199.1:p.Asn792Ser
ENST00000543555.5:c.2177A>G	ENSP00000442697.1:p.Asn726Ser
ENST00000610696.4:c.*771A>G	ENSP00000483159.1:n.*771A>G
ENST00000613514.4:c.*915A>G	ENSP00000484137.1:n.*915A>G
ENST00000617333.3:c.*1141A>G	ENSP00000482468.1:n.*1141A>G
ENST00000617938.4:c.*1347A>G	ENSP00000481158.1:n.*1347A>G
ENST00000621359.2:c.2374A>G	ENSP00000481416.1:p.Ile792Val
NM_000251.2:c.2375A>G , LRG_218t1:c.2375A>G	NP_000242.1:p.Asn792Ser
NM_001258281.1:c.2177A>G	NP_001245210.1:p.Asn726Ser
XM_005264332.2:c.2375A>G	XP_005264389.2:p.Asn792Ser
XM_011532867.1:c.2375A>G	XP_011531169.1:p.Asn792Ser
XR_939685.1:n.2447A>G
XM_005264332.4:c.2375A>G	XP_005264389.2:p.Asn792Ser
XM_011532867.2:c.2375A>G	XP_011531169.1:p.Asn792Ser
XR_001738747.2:n.2437A>G
XR_939685.2:n.2437A>G
NM_000251.3:c.2375A>G MANE Select	NP_000242.1:p.Asn792Ser