Canonical Allele Identifier: CA346729109

Gene: MSH2

Linked Data

• ClinVar Variation Id: 433893
• ClinVar RCV Id: RCV000501150 ; RCV003449402
• dbSNP Id: rs1057520735
• COSMIC: COSM1614880
• MyVariant Identifiers: chr2:g.47703527C>T (hg19) ; chr2:g.47476388C>T (hg38)
• PubMed: PMID:23690608

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476388C>T , CM000664.2:g.47476388C>T	GRCh38
NC_000002.11:g.47703527C>T , CM000664.1:g.47703527C>T	GRCh37
NC_000002.10:g.47557031C>T	NCBI36
NG_007110.2:g.78265C>T , LRG_218:g.78265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2027C>T	ENSP00000495641.2:p.Ser676Leu
ENST00000233146.7:c.2027C>T MANE Select	ENSP00000233146.2:p.Ser676Leu
ENST00000543555.6:c.1829C>T	ENSP00000442697.1:p.Ser610Leu
ENST00000644092.1:c.*327C>T	ENSP00000496351.1:n.*327C>T
ENST00000645339.1:c.2027C>T	ENSP00000496441.1:p.Ser676Leu
ENST00000645506.1:c.2027C>T	ENSP00000495455.1:p.Ser676Leu
ENST00000646415.1:c.2027C>T	ENSP00000495543.1:p.Ser676Leu
ENST00000233146.6:c.2027C>T	ENSP00000233146.2:p.Ser676Leu
ENST00000406134.5:c.2027C>T	ENSP00000384199.1:p.Ser676Leu
ENST00000543555.5:c.1829C>T	ENSP00000442697.1:p.Ser610Leu
ENST00000610696.4:c.*423C>T	ENSP00000483159.1:n.*423C>T
ENST00000613514.4:c.*567C>T	ENSP00000484137.1:n.*567C>T
ENST00000617333.3:c.*793C>T	ENSP00000482468.1:n.*793C>T
ENST00000617938.4:c.*999C>T	ENSP00000481158.1:n.*999C>T
ENST00000621359.2:c.2027C>T	ENSP00000481416.1:p.Ser676Leu
NM_000251.2:c.2027C>T , LRG_218t1:c.2027C>T	NP_000242.1:p.Ser676Leu
NM_001258281.1:c.1829C>T	NP_001245210.1:p.Ser610Leu
XM_005264332.2:c.2027C>T	XP_005264389.2:p.Ser676Leu
XM_011532867.1:c.2027C>T	XP_011531169.1:p.Ser676Leu
XR_939685.1:n.2099C>T
XM_005264332.4:c.2027C>T	XP_005264389.2:p.Ser676Leu
XM_011532867.2:c.2027C>T	XP_011531169.1:p.Ser676Leu
XR_001738747.2:n.2089C>T
XR_939685.2:n.2089C>T
NM_000251.3:c.2027C>T MANE Select	NP_000242.1:p.Ser676Leu