Canonical Allele Identifier: CA409637869

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038308C>A (hg19) ; chr20:g.63406955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406955C>A , CM000682.2:g.63406955C>A	GRCh38
NC_000020.10:g.62038308C>A , CM000682.1:g.62038308C>A	GRCh37
NC_000020.9:g.61508752C>A	NCBI36
NG_009004.1:g.70686G>T
NG_009004.2:g.70686G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2362G>T	ENSP00000516702.1:p.Asp788Tyr
ENST00000359125.7:c.2308G>T MANE Select	ENSP00000352035.2:p.Asp770Tyr
ENST00000637193.1:c.1705G>T	ENSP00000490734.1:p.Asp569Tyr
ENST00000344462.8:c.2215G>T	ENSP00000339611.4:p.Asp739Tyr
ENST00000357249.6:c.1876G>T	ENSP00000349789.3:p.Asp626Tyr
ENST00000359125.6:c.2308G>T	ENSP00000352035.2:p.Asp770Tyr
ENST00000360480.7:c.2224G>T	ENSP00000353668.3:p.Asp742Tyr
ENST00000370224.5:c.2241+91G>T	ENSP00000359244.2:n.2241+91G>T
ENST00000625514.2:c.2205+91G>T	ENSP00000486040.1:n.2205+91G>T
ENST00000626839.2:c.2254G>T	ENSP00000486706.1:p.Asp752Tyr
ENST00000629241.2:c.2133+91G>T	ENSP00000487142.1:n.2133+91G>T
ENST00000629676.2:c.1680-6112G>T	ENSP00000486194.1:n.1680-6112G>T
NM_004518.4:c.2224G>T	NP_004509.2:p.Asp742Tyr
NM_172106.1:c.2254G>T	NP_742104.1:p.Asp752Tyr
NM_172107.2:c.2308G>T	NP_742105.1:p.Asp770Tyr
NM_172108.3:c.2215G>T	NP_742106.1:p.Asp739Tyr
XM_006723787.1:c.2350G>T	XP_006723850.1:p.Asp784Tyr
XM_011528807.1:c.2416G>T	XP_011527109.1:p.Asp806Tyr
XM_011528808.1:c.2413G>T	XP_011527110.1:p.Asp805Tyr
XM_011528809.1:c.2386G>T	XP_011527111.1:p.Asp796Tyr
XM_011528810.1:c.2362G>T	XP_011527112.1:p.Asp788Tyr
XM_011528811.1:c.2332G>T	XP_011527113.1:p.Asp778Tyr
XM_011528812.1:c.2305G>T	XP_011527114.1:p.Asp769Tyr
XM_011528813.1:c.2290G>T	XP_011527115.1:p.Asp764Tyr
XM_011528814.1:c.1897G>T	XP_011527116.1:p.Asp633Tyr
NM_004518.5:c.2224G>T	NP_004509.2:p.Asp742Tyr
NM_172106.2:c.2254G>T	NP_742104.1:p.Asp752Tyr
NM_172107.3:c.2308G>T	NP_742105.1:p.Asp770Tyr
NM_172108.4:c.2215G>T	NP_742106.1:p.Asp739Tyr
XM_011528810.2:c.2362G>T	XP_011527112.1:p.Asp788Tyr
XM_011528811.2:c.2332G>T	XP_011527113.1:p.Asp778Tyr
XM_017027841.2:c.2359G>T	XP_016883330.1:p.Asp787Tyr
XM_017027842.2:c.2296G>T	XP_016883331.1:p.Asp766Tyr
XM_017027843.1:c.2293G>T	XP_016883332.1:p.Asp765Tyr
XM_017027844.2:c.2251G>T	XP_016883333.1:p.Asp751Tyr
XM_017027845.1:c.1324G>T	XP_016883334.1:p.Asp442Tyr
NM_004518.6:c.2224G>T	NP_004509.2:p.Asp742Tyr
NM_172106.3:c.2254G>T	NP_742104.1:p.Asp752Tyr
NM_172107.4:c.2308G>T MANE Select	NP_742105.1:p.Asp770Tyr
NM_172108.5:c.2215G>T	NP_742106.1:p.Asp739Tyr
NM_001382235.1:c.2362G>T	NP_001369164.1:p.Asp788Tyr