LDH info

Canonical Allele Identifier: CA5643407
Gene: ABCC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 289529
ClinVar RCV Id: RCV000391369
dbSNP Id: rs764958537

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99817338T>C , CM000672.2:g.99817338T>C GRCh38
NC_000010.10:g.101577095T>C , CM000672.1:g.101577095T>C GRCh37
NC_000010.9:g.101567085T>C NCBI36
NG_011798.1:g.39633T>C
NG_011798.2:g.39741T>C

Transcript Alleles

HGVS Amino-acid change
NM_000392.4:c.2125T>C VV NP_000383.1:p.Trp709Arg
XM_006717630.2:c.1429T>C XP_006717693.1:p.Trp477Arg
XM_006717631.2:c.2125T>C XP_006717694.1:p.Trp709Arg
XM_011539291.1:c.2125T>C XP_011537593.1:p.Trp709Arg
XR_945604.1:n.2314T>C
XR_945605.1:n.2316T>C
NM_000392.5:c.2125T>C VV NP_000383.2:p.Trp709Arg
XM_006717630.3:c.1429T>C XP_006717693.1:p.Trp477Arg
XM_006717631.4:c.2125T>C XP_006717694.1:p.Trp709Arg
XM_011539291.3:c.2125T>C XP_011537593.1:p.Trp709Arg
XM_017015675.2:c.2125T>C XP_016871164.1:p.Trp709Arg
XR_945604.3:n.2368T>C
XR_945605.3:n.2368T>C
ENST00000370449.8:c.2125T>C ENSP00000359478.4:p.Trp709Arg