Canonical Allele Identifier: CA425967478

Gene: MSH2

Linked Data

• ClinVar Variation Id: 820112
• ClinVar RCV Id: RCV001013246
• dbSNP Id: rs1453026899
• MyVariant Identifiers: chr2:g.47702210A>C (hg19) ; chr2:g.47475071A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475071A>C , CM000664.2:g.47475071A>C	GRCh38
NC_000002.11:g.47702210A>C , CM000664.1:g.47702210A>C	GRCh37
NC_000002.10:g.47555714A>C	NCBI36
NG_007110.2:g.76948A>C , LRG_218:g.76948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1806A>C	ENSP00000495641.2:p.Leu602=
ENST00000233146.7:c.1806A>C MANE Select	ENSP00000233146.2:p.Leu602=
ENST00000543555.6:c.1608A>C	ENSP00000442697.1:p.Leu536=
ENST00000644092.1:c.*106A>C	ENSP00000496351.1:n.*106A>C
ENST00000645339.1:c.1806A>C	ENSP00000496441.1:p.Leu602=
ENST00000645506.1:c.1806A>C	ENSP00000495455.1:p.Leu602=
ENST00000646415.1:c.1806A>C	ENSP00000495543.1:p.Leu602=
ENST00000233146.6:c.1806A>C	ENSP00000233146.2:p.Leu602=
ENST00000406134.5:c.1806A>C	ENSP00000384199.1:p.Leu602=
ENST00000543555.5:c.1608A>C	ENSP00000442697.1:p.Leu536=
ENST00000610696.4:c.*202A>C	ENSP00000483159.1:n.*202A>C
ENST00000613514.4:c.*346A>C	ENSP00000484137.1:n.*346A>C
ENST00000617333.3:c.*572A>C	ENSP00000482468.1:n.*572A>C
ENST00000617938.4:c.*778A>C	ENSP00000481158.1:n.*778A>C
ENST00000621359.2:c.1806A>C	ENSP00000481416.1:p.Leu602=
NM_000251.2:c.1806A>C , LRG_218t1:c.1806A>C	NP_000242.1:p.Leu602=
NM_001258281.1:c.1608A>C	NP_001245210.1:p.Leu536=
XM_005264332.2:c.1806A>C	XP_005264389.2:p.Leu602=
XM_011532867.1:c.1806A>C	XP_011531169.1:p.Leu602=
XR_939685.1:n.1878A>C
XM_005264332.4:c.1806A>C	XP_005264389.2:p.Leu602=
XM_011532867.2:c.1806A>C	XP_011531169.1:p.Leu602=
XR_001738747.2:n.1868A>C
XR_939685.2:n.1868A>C
NM_000251.3:c.1806A>C MANE Select	NP_000242.1:p.Leu602=