Canonical Allele Identifier: CA338683

Gene: MSH2

Linked Data

• ClinVar Variation Id: 216353
• ClinVar RCV Id: RCV000199509 ; RCV000215183 ; RCV000411596
• dbSNP Id: rs63750368
• gnomAD v4: 2-47478354-G-A
• MyVariant Identifiers: chr2:g.47705493G>A (hg19) ; chr2:g.47478354G>A (hg38)
• PubMed: PMID:10348818 ; PMID:18383312 ; PMID:24362816 ; PMID:24393486 ; PMID:25479140 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478354G>A , CM000664.2:g.47478354G>A	GRCh38
NC_000002.11:g.47705493G>A , CM000664.1:g.47705493G>A	GRCh37
NC_000002.10:g.47558997G>A	NCBI36
NG_007110.2:g.80231G>A , LRG_218:g.80231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2293G>A	ENSP00000495641.2:p.Ala765Thr
ENST00000233146.7:c.2293G>A MANE Select	ENSP00000233146.2:p.Ala765Thr
ENST00000543555.6:c.2095G>A	ENSP00000442697.1:p.Ala699Thr
ENST00000644092.1:c.*593G>A	ENSP00000496351.1:n.*593G>A
ENST00000644900.1:c.146G>A
ENST00000645339.1:c.2293G>A	ENSP00000496441.1:p.Ala765Thr
ENST00000645506.1:c.2293G>A	ENSP00000495455.1:p.Ala765Thr
ENST00000646415.1:c.2293G>A	ENSP00000495543.1:p.Ala765Thr
ENST00000233146.6:c.2293G>A	ENSP00000233146.2:p.Ala765Thr
ENST00000406134.5:c.2293G>A	ENSP00000384199.1:p.Ala765Thr
ENST00000543555.5:c.2095G>A	ENSP00000442697.1:p.Ala699Thr
ENST00000610696.4:c.*689G>A	ENSP00000483159.1:n.*689G>A
ENST00000613514.4:c.*833G>A	ENSP00000484137.1:n.*833G>A
ENST00000617333.3:c.*1059G>A	ENSP00000482468.1:n.*1059G>A
ENST00000617938.4:c.*1265G>A	ENSP00000481158.1:n.*1265G>A
ENST00000621359.2:c.2293G>A	ENSP00000481416.1:p.Ala765Thr
NM_000251.2:c.2293G>A , LRG_218t1:c.2293G>A	NP_000242.1:p.Ala765Thr
NM_001258281.1:c.2095G>A	NP_001245210.1:p.Ala699Thr
XM_005264332.2:c.2293G>A	XP_005264389.2:p.Ala765Thr
XM_011532867.1:c.2293G>A	XP_011531169.1:p.Ala765Thr
XR_939685.1:n.2365G>A
XM_005264332.4:c.2293G>A	XP_005264389.2:p.Ala765Thr
XM_011532867.2:c.2293G>A	XP_011531169.1:p.Ala765Thr
XR_001738747.2:n.2355G>A
XR_939685.2:n.2355G>A
NM_000251.3:c.2293G>A MANE Select	NP_000242.1:p.Ala765Thr