Canonical Allele Identifier: CA018877

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90724
• ClinVar RCV Id: RCV000076221 ; RCV000491785 ; RCV001357409 ; RCV003452847 ; RCV003593896
• dbSNP Id: rs63750597
• MyVariant Identifiers: chr2:g.47693947G>C (hg19) ; chr2:g.47466808G>C (hg38)
• PubMed: PMID:15365996 ; PMID:15937982 ; PMID:16476474 ; PMID:19250818 ; PMID:22290698

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466808G>C , CM000664.2:g.47466808G>C	GRCh38
NC_000002.11:g.47693947G>C , CM000664.1:g.47693947G>C	GRCh37
NC_000002.10:g.47547451G>C	NCBI36
NG_007110.2:g.68685G>C , LRG_218:g.68685G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1661G>C	ENSP00000495641.2:p.Ser554Thr
ENST00000233146.7:c.1661G>C MANE Select	ENSP00000233146.2:p.Ser554Thr
ENST00000543555.6:c.1463G>C	ENSP00000442697.1:p.Ser488Thr
ENST00000644092.1:c.1661G>C	ENSP00000496351.1:p.Arg554Thr
ENST00000645339.1:c.1661G>C	ENSP00000496441.1:p.Ser554Thr
ENST00000645506.1:c.1661G>C	ENSP00000495455.1:p.Ser554Thr
ENST00000646415.1:c.1661G>C	ENSP00000495543.1:p.Ser554Thr
ENST00000233146.6:c.1661G>C	ENSP00000233146.2:p.Ser554Thr
ENST00000406134.5:c.1661G>C	ENSP00000384199.1:p.Ser554Thr
ENST00000543555.5:c.1463G>C	ENSP00000442697.1:p.Ser488Thr
ENST00000610696.4:c.*57G>C	ENSP00000483159.1:n.*57G>C
ENST00000613514.4:c.*201G>C	ENSP00000484137.1:n.*201G>C
ENST00000617333.3:c.*427G>C	ENSP00000482468.1:n.*427G>C
ENST00000617938.4:c.*633G>C	ENSP00000481158.1:n.*633G>C
ENST00000621359.2:c.1661G>C	ENSP00000481416.1:p.Ser554Thr
NM_000251.2:c.1661G>C , LRG_218t1:c.1661G>C	NP_000242.1:p.Ser554Thr
NM_001258281.1:c.1463G>C	NP_001245210.1:p.Ser488Thr
XM_005264332.2:c.1661G>C	XP_005264389.2:p.Ser554Thr
XM_011532867.1:c.1661G>C	XP_011531169.1:p.Ser554Thr
XR_939685.1:n.1733G>C
XM_005264332.4:c.1661G>C	XP_005264389.2:p.Ser554Thr
XM_011532867.2:c.1661G>C	XP_011531169.1:p.Ser554Thr
XR_001738747.2:n.1723G>C
XR_939685.2:n.1723G>C
NM_000251.3:c.1661G>C MANE Select	NP_000242.1:p.Ser554Thr