Canonical Allele Identifier: CA019790

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90855
• ClinVar RCV Id: RCV000220086 ; RCV000483333 ; RCV000524371 ; RCV000765672
• dbSNP Id: rs41294982
• ExAC: 2:47703509 C / T
• gnomAD v2: 2-47703509-C-T
• gnomAD v3: 2-47476370-C-T
• gnomAD v4: 2-47476370-C-T
• MyVariant Identifiers: chr2:g.47703509C>T (hg19) ; chr2:g.47476370C>T (hg38)
• PubMed: PMID:18033691 ; PMID:19389263 ; PMID:22290698

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476370C>T , CM000664.2:g.47476370C>T	GRCh38
NC_000002.11:g.47703509C>T , CM000664.1:g.47703509C>T	GRCh37
NC_000002.10:g.47557013C>T	NCBI36
NG_007110.2:g.78247C>T , LRG_218:g.78247C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2009C>T	ENSP00000495641.2:p.Pro670Leu
ENST00000233146.7:c.2009C>T MANE Select	ENSP00000233146.2:p.Pro670Leu
ENST00000543555.6:c.1811C>T	ENSP00000442697.1:p.Pro604Leu
ENST00000644092.1:c.*309C>T	ENSP00000496351.1:n.*309C>T
ENST00000645339.1:c.2009C>T	ENSP00000496441.1:p.Pro670Leu
ENST00000645506.1:c.2009C>T	ENSP00000495455.1:p.Pro670Leu
ENST00000646415.1:c.2009C>T	ENSP00000495543.1:p.Pro670Leu
ENST00000233146.6:c.2009C>T	ENSP00000233146.2:p.Pro670Leu
ENST00000406134.5:c.2009C>T	ENSP00000384199.1:p.Pro670Leu
ENST00000543555.5:c.1811C>T	ENSP00000442697.1:p.Pro604Leu
ENST00000610696.4:c.*405C>T	ENSP00000483159.1:n.*405C>T
ENST00000613514.4:c.*549C>T	ENSP00000484137.1:n.*549C>T
ENST00000617333.3:c.*775C>T	ENSP00000482468.1:n.*775C>T
ENST00000617938.4:c.*981C>T	ENSP00000481158.1:n.*981C>T
ENST00000621359.2:c.2009C>T	ENSP00000481416.1:p.Pro670Leu
NM_000251.2:c.2009C>T , LRG_218t1:c.2009C>T	NP_000242.1:p.Pro670Leu
NM_001258281.1:c.1811C>T	NP_001245210.1:p.Pro604Leu
XM_005264332.2:c.2009C>T	XP_005264389.2:p.Pro670Leu
XM_011532867.1:c.2009C>T	XP_011531169.1:p.Pro670Leu
XR_939685.1:n.2081C>T
XM_005264332.4:c.2009C>T	XP_005264389.2:p.Pro670Leu
XM_011532867.2:c.2009C>T	XP_011531169.1:p.Pro670Leu
XR_001738747.2:n.2071C>T
XR_939685.2:n.2071C>T
NM_000251.3:c.2009C>T MANE Select	NP_000242.1:p.Pro670Leu