Canonical Allele Identifier: CA019468

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90805
• ClinVar RCV Id: RCV000255200 ; RCV000491749 ; RCV001036384 ; RCV003452863
• dbSNP Id: rs63750280
• MyVariant Identifiers: chr2:g.47702268C>A (hg19) ; chr2:g.47475129C>A (hg38)
• PubMed: PMID:16426447 ; PMID:16995940 ; PMID:18383312 ; PMID:22883484 ; PMID:28874130

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475129C>A , CM000664.2:g.47475129C>A	GRCh38
NC_000002.11:g.47702268C>A , CM000664.1:g.47702268C>A	GRCh37
NC_000002.10:g.47555772C>A	NCBI36
NG_007110.2:g.77006C>A , LRG_218:g.77006C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1864C>A	ENSP00000495641.2:p.Pro622Thr
ENST00000233146.7:c.1864C>A MANE Select	ENSP00000233146.2:p.Pro622Thr
ENST00000543555.6:c.1666C>A	ENSP00000442697.1:p.Pro556Thr
ENST00000644092.1:c.*164C>A	ENSP00000496351.1:n.*164C>A
ENST00000645339.1:c.1864C>A	ENSP00000496441.1:p.Pro622Thr
ENST00000645506.1:c.1864C>A	ENSP00000495455.1:p.Pro622Thr
ENST00000646415.1:c.1864C>A	ENSP00000495543.1:p.Pro622Thr
ENST00000233146.6:c.1864C>A	ENSP00000233146.2:p.Pro622Thr
ENST00000406134.5:c.1864C>A	ENSP00000384199.1:p.Pro622Thr
ENST00000543555.5:c.1666C>A	ENSP00000442697.1:p.Pro556Thr
ENST00000610696.4:c.*260C>A	ENSP00000483159.1:n.*260C>A
ENST00000613514.4:c.*404C>A	ENSP00000484137.1:n.*404C>A
ENST00000617333.3:c.*630C>A	ENSP00000482468.1:n.*630C>A
ENST00000617938.4:c.*836C>A	ENSP00000481158.1:n.*836C>A
ENST00000621359.2:c.1864C>A	ENSP00000481416.1:p.Pro622Thr
NM_000251.2:c.1864C>A , LRG_218t1:c.1864C>A	NP_000242.1:p.Pro622Thr
NM_001258281.1:c.1666C>A	NP_001245210.1:p.Pro556Thr
XM_005264332.2:c.1864C>A	XP_005264389.2:p.Pro622Thr
XM_011532867.1:c.1864C>A	XP_011531169.1:p.Pro622Thr
XR_939685.1:n.1936C>A
XM_005264332.4:c.1864C>A	XP_005264389.2:p.Pro622Thr
XM_011532867.2:c.1864C>A	XP_011531169.1:p.Pro622Thr
XR_001738747.2:n.1926C>A
XR_939685.2:n.1926C>A
NM_000251.3:c.1864C>A MANE Select	NP_000242.1:p.Pro622Thr