Canonical Allele Identifier: CA409637503

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038254T>A (hg19) ; chr20:g.63406901T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406901T>A , CM000682.2:g.63406901T>A	GRCh38
NC_000020.10:g.62038254T>A , CM000682.1:g.62038254T>A	GRCh37
NC_000020.9:g.61508698T>A	NCBI36
NG_009004.1:g.70740A>T
NG_009004.2:g.70740A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2416A>T	ENSP00000516702.1:p.Ile806Phe
ENST00000359125.7:c.2362A>T MANE Select	ENSP00000352035.2:p.Ile788Phe
ENST00000637193.1:c.1759A>T	ENSP00000490734.1:p.Ile587Phe
ENST00000344462.8:c.2269A>T	ENSP00000339611.4:p.Ile757Phe
ENST00000357249.6:c.1930A>T	ENSP00000349789.3:p.Ile644Phe
ENST00000359125.6:c.2362A>T	ENSP00000352035.2:p.Ile788Phe
ENST00000360480.7:c.2278A>T	ENSP00000353668.3:p.Ile760Phe
ENST00000370224.5:c.2241+145A>T	ENSP00000359244.2:n.2241+145A>T
ENST00000625514.2:c.2205+145A>T	ENSP00000486040.1:n.2205+145A>T
ENST00000626839.2:c.2308A>T	ENSP00000486706.1:p.Ile770Phe
ENST00000629241.2:c.2133+145A>T	ENSP00000487142.1:n.2133+145A>T
ENST00000629676.2:c.1680-6058A>T	ENSP00000486194.1:n.1680-6058A>T
NM_004518.4:c.2278A>T	NP_004509.2:p.Ile760Phe
NM_172106.1:c.2308A>T	NP_742104.1:p.Ile770Phe
NM_172107.2:c.2362A>T	NP_742105.1:p.Ile788Phe
NM_172108.3:c.2269A>T	NP_742106.1:p.Ile757Phe
XM_006723787.1:c.2404A>T	XP_006723850.1:p.Ile802Phe
XM_011528807.1:c.2470A>T	XP_011527109.1:p.Ile824Phe
XM_011528808.1:c.2467A>T	XP_011527110.1:p.Ile823Phe
XM_011528809.1:c.2440A>T	XP_011527111.1:p.Ile814Phe
XM_011528810.1:c.2416A>T	XP_011527112.1:p.Ile806Phe
XM_011528811.1:c.2386A>T	XP_011527113.1:p.Ile796Phe
XM_011528812.1:c.2359A>T	XP_011527114.1:p.Ile787Phe
XM_011528813.1:c.2344A>T	XP_011527115.1:p.Ile782Phe
XM_011528814.1:c.1951A>T	XP_011527116.1:p.Ile651Phe
NM_004518.5:c.2278A>T	NP_004509.2:p.Ile760Phe
NM_172106.2:c.2308A>T	NP_742104.1:p.Ile770Phe
NM_172107.3:c.2362A>T	NP_742105.1:p.Ile788Phe
NM_172108.4:c.2269A>T	NP_742106.1:p.Ile757Phe
XM_011528810.2:c.2416A>T	XP_011527112.1:p.Ile806Phe
XM_011528811.2:c.2386A>T	XP_011527113.1:p.Ile796Phe
XM_017027841.2:c.2413A>T	XP_016883330.1:p.Ile805Phe
XM_017027842.2:c.2350A>T	XP_016883331.1:p.Ile784Phe
XM_017027843.1:c.2347A>T	XP_016883332.1:p.Ile783Phe
XM_017027844.2:c.2305A>T	XP_016883333.1:p.Ile769Phe
XM_017027845.1:c.1378A>T	XP_016883334.1:p.Ile460Phe
NM_004518.6:c.2278A>T	NP_004509.2:p.Ile760Phe
NM_172106.3:c.2308A>T	NP_742104.1:p.Ile770Phe
NM_172107.4:c.2362A>T MANE Select	NP_742105.1:p.Ile788Phe
NM_172108.5:c.2269A>T	NP_742106.1:p.Ile757Phe
NM_001382235.1:c.2416A>T	NP_001369164.1:p.Ile806Phe