Canonical Allele Identifier: CA409637743

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038289G>C (hg19) ; chr20:g.63406936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406936G>C , CM000682.2:g.63406936G>C	GRCh38
NC_000020.10:g.62038289G>C , CM000682.1:g.62038289G>C	GRCh37
NC_000020.9:g.61508733G>C	NCBI36
NG_009004.1:g.70705C>G
NG_009004.2:g.70705C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2381C>G	ENSP00000516702.1:p.Pro794Arg
ENST00000359125.7:c.2327C>G MANE Select	ENSP00000352035.2:p.Pro776Arg
ENST00000637193.1:c.1724C>G	ENSP00000490734.1:p.Pro575Arg
ENST00000344462.8:c.2234C>G	ENSP00000339611.4:p.Pro745Arg
ENST00000357249.6:c.1895C>G	ENSP00000349789.3:p.Pro632Arg
ENST00000359125.6:c.2327C>G	ENSP00000352035.2:p.Pro776Arg
ENST00000360480.7:c.2243C>G	ENSP00000353668.3:p.Pro748Arg
ENST00000370224.5:c.2241+110C>G	ENSP00000359244.2:n.2241+110C>G
ENST00000625514.2:c.2205+110C>G	ENSP00000486040.1:n.2205+110C>G
ENST00000626839.2:c.2273C>G	ENSP00000486706.1:p.Pro758Arg
ENST00000629241.2:c.2133+110C>G	ENSP00000487142.1:n.2133+110C>G
ENST00000629676.2:c.1680-6093C>G	ENSP00000486194.1:n.1680-6093C>G
NM_004518.4:c.2243C>G	NP_004509.2:p.Pro748Arg
NM_172106.1:c.2273C>G	NP_742104.1:p.Pro758Arg
NM_172107.2:c.2327C>G	NP_742105.1:p.Pro776Arg
NM_172108.3:c.2234C>G	NP_742106.1:p.Pro745Arg
XM_006723787.1:c.2369C>G	XP_006723850.1:p.Pro790Arg
XM_011528807.1:c.2435C>G	XP_011527109.1:p.Pro812Arg
XM_011528808.1:c.2432C>G	XP_011527110.1:p.Pro811Arg
XM_011528809.1:c.2405C>G	XP_011527111.1:p.Pro802Arg
XM_011528810.1:c.2381C>G	XP_011527112.1:p.Pro794Arg
XM_011528811.1:c.2351C>G	XP_011527113.1:p.Pro784Arg
XM_011528812.1:c.2324C>G	XP_011527114.1:p.Pro775Arg
XM_011528813.1:c.2309C>G	XP_011527115.1:p.Pro770Arg
XM_011528814.1:c.1916C>G	XP_011527116.1:p.Pro639Arg
NM_004518.5:c.2243C>G	NP_004509.2:p.Pro748Arg
NM_172106.2:c.2273C>G	NP_742104.1:p.Pro758Arg
NM_172107.3:c.2327C>G	NP_742105.1:p.Pro776Arg
NM_172108.4:c.2234C>G	NP_742106.1:p.Pro745Arg
XM_011528810.2:c.2381C>G	XP_011527112.1:p.Pro794Arg
XM_011528811.2:c.2351C>G	XP_011527113.1:p.Pro784Arg
XM_017027841.2:c.2378C>G	XP_016883330.1:p.Pro793Arg
XM_017027842.2:c.2315C>G	XP_016883331.1:p.Pro772Arg
XM_017027843.1:c.2312C>G	XP_016883332.1:p.Pro771Arg
XM_017027844.2:c.2270C>G	XP_016883333.1:p.Pro757Arg
XM_017027845.1:c.1343C>G	XP_016883334.1:p.Pro448Arg
NM_004518.6:c.2243C>G	NP_004509.2:p.Pro748Arg
NM_172106.3:c.2273C>G	NP_742104.1:p.Pro758Arg
NM_172107.4:c.2327C>G MANE Select	NP_742105.1:p.Pro776Arg
NM_172108.5:c.2234C>G	NP_742106.1:p.Pro745Arg
NM_001382235.1:c.2381C>G	NP_001369164.1:p.Pro794Arg