LDH info

Canonical Allele Identifier: CA018560
Gene: MSH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 182563
dbSNP Id: rs587782355

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47466677G>C , CM000664.2:g.47466677G>C GRCh38
NC_000002.11:g.47693816G>C , CM000664.1:g.47693816G>C GRCh37
NC_000002.10:g.47547320G>C NCBI36
NG_007110.2:g.68554G>C , LRG_218:g.68554G>C

Transcript Alleles

HGVS Amino-acid change
NM_000251.2:c.1530G>C , LRG_218t1:c.1530G>C NP_000242.1:p.Gln510His
NM_001258281.1:c.1332G>C VV NP_001245210.1:p.Gln444His
XM_005264332.2:c.1530G>C XP_005264389.2:p.Gln510His
XM_011532867.1:c.1530G>C XP_011531169.1:p.Gln510His
XR_939685.1:n.1602G>C
XM_005264332.4:c.1530G>C XP_005264389.2:p.Gln510His
XM_011532867.2:c.1530G>C XP_011531169.1:p.Gln510His
XR_001738747.2:n.1592G>C
XR_939685.2:n.1592G>C
NM_000251.3:c.1530G>C VV NP_000242.1:p.Gln510His
ENST00000233146.6:c.1530G>C ENSP00000233146.2:p.Gln510His
ENST00000406134.5:c.1530G>C ENSP00000384199.1:p.Gln510His
ENST00000543555.5:c.1332G>C ENSP00000442697.1:p.Gln444His
ENST00000610696.4:c.1530G>C ENSP00000483159.1:p.Gln510His
ENST00000613514.4:c.*70G>C ENSP00000484137.1:p.=
ENST00000617333.3:c.*296G>C ENSP00000482468.1:p.=
ENST00000617938.4:c.*502G>C ENSP00000481158.1:p.=
ENST00000621359.2:c.1530G>C ENSP00000481416.1:p.Gln510His