LDH info

Canonical Allele Identifier: CA10654808
Gene: KCNQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369771
ClinVar RCV Id: RCV000678150
dbSNP Id: rs1057516100

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63439614A>G , CM000682.2:g.63439614A>G GRCh38
NC_000020.10:g.62070967A>G , CM000682.1:g.62070967A>G GRCh37
NC_000020.9:g.61541411A>G NCBI36
NG_009004.1:g.38027T>C
NG_009004.2:g.38027T>C

Transcript Alleles

HGVS Amino-acid change
NM_004518.4:c.911T>C VV NP_004509.2:p.Phe304Ser
NM_172106.1:c.911T>C VV NP_742104.1:p.Phe304Ser
NM_172107.2:c.911T>C VV NP_742105.1:p.Phe304Ser
NM_172108.3:c.911T>C VV NP_742106.1:p.Phe304Ser
NM_172109.1:c.911T>C VV NP_742107.1:p.Phe304Ser
XM_006723787.1:c.911T>C XP_006723850.1:p.Phe304Ser
XM_011528807.1:c.911T>C XP_011527109.1:p.Phe304Ser
XM_011528808.1:c.911T>C XP_011527110.1:p.Phe304Ser
XM_011528809.1:c.911T>C XP_011527111.1:p.Phe304Ser
XM_011528810.1:c.911T>C XP_011527112.1:p.Phe304Ser
XM_011528811.1:c.911T>C XP_011527113.1:p.Phe304Ser
XM_011528812.1:c.911T>C XP_011527114.1:p.Phe304Ser
XM_011528813.1:c.785T>C XP_011527115.1:p.Phe262Ser
XM_011528814.1:c.392T>C XP_011527116.1:p.Phe131Ser
XM_011528815.1:c.911T>C XP_011527117.1:p.Phe304Ser
XM_011528816.1:c.911T>C XP_011527118.1:p.Phe304Ser
NM_004518.5:c.911T>C VV NP_004509.2:p.Phe304Ser
NM_172106.2:c.911T>C VV NP_742104.1:p.Phe304Ser
NM_172107.3:c.911T>C VV NP_742105.1:p.Phe304Ser
NM_172108.4:c.911T>C VV NP_742106.1:p.Phe304Ser
NM_172109.2:c.911T>C VV NP_742107.1:p.Phe304Ser
XM_011528810.2:c.911T>C XP_011527112.1:p.Phe304Ser
XM_011528811.2:c.911T>C XP_011527113.1:p.Phe304Ser
XM_017027841.2:c.911T>C XP_016883330.1:p.Phe304Ser
XM_017027842.2:c.911T>C XP_016883331.1:p.Phe304Ser
XM_017027843.1:c.842T>C XP_016883332.1:p.Phe281Ser
XM_017027844.2:c.911T>C XP_016883333.1:p.Phe304Ser
ENST00000344425.7:c.911T>C ENSP00000345523.5:p.Phe304Ser
ENST00000344462.8:c.911T>C ENSP00000339611.4:p.Phe304Ser
ENST00000357249.6:n.569T>C ENSP00000349789.3:p.Phe190Ser
ENST00000359125.6:c.911T>C ENSP00000352035.2:p.Phe304Ser
ENST00000360480.7:c.911T>C ENSP00000353668.3:p.Phe304Ser
ENST00000370221.3:n.1037T>C
ENST00000370224.5:c.911T>C ENSP00000359244.2:p.Phe304Ser
ENST00000625514.2:c.911T>C ENSP00000486040.1:p.Phe304Ser
ENST00000626684.1:n.276T>C
ENST00000626839.2:c.911T>C ENSP00000486706.1:p.Phe304Ser
ENST00000627221.2:n.55T>C
ENST00000629241.2:c.911T>C ENSP00000487142.1:p.Phe304Ser
ENST00000629498.2:n.414T>C ENSP00000486509.1:p.Leu138=
ENST00000629676.2:c.911T>C ENSP00000486194.1:p.Phe304Ser
ENST00000630274.2:n.736T>C