Canonical Allele Identifier: CA020651

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90988
• ClinVar RCV Id: RCV000115519 ; RCV000212621 ; RCV000410916 ; RCV000656882 ; RCV001082618 ; RCV003997162
• dbSNP Id: rs41295296
• ExAC: 2:47707879 A / C
• gnomAD v2: 2-47707879-A-C
• gnomAD v3: 2-47480740-A-C
• gnomAD v4: 2-47480740-A-C
• MyVariant Identifiers: chr2:g.47707879A>C (hg19) ; chr2:g.47480740A>C (hg38)
• PubMed: PMID:16885385 ; PMID:17531815 ; PMID:18033691 ; PMID:19117025 ; PMID:21153778 ; PMID:21671081 ; PMID:22290698 ; PMID:22949387 ; PMID:25503501 ; PMID:26333163

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480740A>C , CM000664.2:g.47480740A>C	GRCh38
NC_000002.11:g.47707879A>C , CM000664.1:g.47707879A>C	GRCh37
NC_000002.10:g.47561383A>C	NCBI36
NG_007110.2:g.82617A>C , LRG_218:g.82617A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2503A>C	ENSP00000495641.2:p.Asn835His
ENST00000233146.7:c.2503A>C MANE Select	ENSP00000233146.2:p.Asn835His
ENST00000543555.6:c.2305A>C	ENSP00000442697.1:p.Asn769His
ENST00000644092.1:c.*803A>C	ENSP00000496351.1:n.*803A>C
ENST00000644900.1:c.356A>C
ENST00000645339.1:c.2503A>C	ENSP00000496441.1:p.Asn835His
ENST00000645506.1:c.2503A>C	ENSP00000495455.1:p.Asn835His
ENST00000646415.1:c.2503A>C	ENSP00000495543.1:p.Asn835His
ENST00000233146.6:c.2503A>C	ENSP00000233146.2:p.Asn835His
ENST00000406134.5:c.2503A>C	ENSP00000384199.1:p.Asn835His
ENST00000543555.5:c.2305A>C	ENSP00000442697.1:p.Asn769His
ENST00000610696.4:c.*899A>C	ENSP00000483159.1:n.*899A>C
ENST00000613514.4:c.*1043A>C	ENSP00000484137.1:n.*1043A>C
ENST00000617333.3:c.*1269A>C	ENSP00000482468.1:n.*1269A>C
ENST00000617938.4:c.*1475A>C	ENSP00000481158.1:n.*1475A>C
ENST00000621359.2:c.*69A>C	ENSP00000481416.1:n.*69A>C
NM_000251.2:c.2503A>C , LRG_218t1:c.2503A>C	NP_000242.1:p.Asn835His
NM_001258281.1:c.2305A>C	NP_001245210.1:p.Asn769His
XM_005264332.2:c.2503A>C	XP_005264389.2:p.Asn835His
XM_011532867.1:c.2503A>C	XP_011531169.1:p.Asn835His
XR_939685.1:n.2575A>C
XM_005264332.4:c.2503A>C	XP_005264389.2:p.Asn835His
XM_011532867.2:c.2503A>C	XP_011531169.1:p.Asn835His
XR_001738747.2:n.2565A>C
XR_939685.2:n.2565A>C
NM_000251.3:c.2503A>C MANE Select	NP_000242.1:p.Asn835His