Canonical Allele Identifier: CA2374778179

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413908_63413910delinsCAG , CM000682.2:g.63413908_63413910delinsCAG	GRCh38
NC_000020.10:g.62045261_62045263delinsCAG , CM000682.1:g.62045261_62045263delinsCAG	GRCh37
NC_000020.9:g.61515705_61515707delinsCAG	NCBI36
NG_009004.1:g.63731_63733delinsCTG
NG_009004.2:g.63731_63733delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1577+178_1577+180delinsCTG	ENSP00000516702.1:n.1577+178_1577+180delinsCTG
ENST00000359125.7:c.1631+178_1631+180delinsCTG MANE Select	ENSP00000352035.2:n.1631+178_1631+180delinsCTG
ENST00000637193.1:c.1028+178_1028+180delinsCTG	ENSP00000490734.1:n.1028+178_1028+180delinsCTG
ENST00000344462.8:c.1538+178_1538+180delinsCTG	ENSP00000339611.4:n.1538+178_1538+180delinsCTG
ENST00000357249.6:c.1199+178_1199+180delinsCTG	ENSP00000349789.3:n.1199+178_1199+180delinsCTG
ENST00000359125.6:c.1631+178_1631+180delinsCTG	ENSP00000352035.2:n.1631+178_1631+180delinsCTG
ENST00000360480.7:c.1547+178_1547+180delinsCTG	ENSP00000353668.3:n.1547+178_1547+180delinsCTG
ENST00000370224.5:c.1547+178_1547+180delinsCTG	ENSP00000359244.2:n.1547+178_1547+180delinsCTG
ENST00000625514.2:c.1511+178_1511+180delinsCTG	ENSP00000486040.1:n.1511+178_1511+180delinsCTG
ENST00000626839.2:c.1577+178_1577+180delinsCTG	ENSP00000486706.1:n.1577+178_1577+180delinsCTG
ENST00000629241.2:c.1547+178_1547+180delinsCTG	ENSP00000487142.1:n.1547+178_1547+180delinsCTG
ENST00000629318.1:c.239+178_239+180delinsCTG	ENSP00000487384.1:n.239+178_239+180delinsCTG
ENST00000629676.2:c.1547+178_1547+180delinsCTG	ENSP00000486194.1:n.1547+178_1547+180delinsCTG
NM_004518.4:c.1547+178_1547+180delinsCTG	NP_004509.2:n.1547+178_1547+180delinsCTG
NM_172106.1:c.1577+178_1577+180delinsCTG	NP_742104.1:n.1577+178_1577+180delinsCTG
NM_172107.2:c.1631+178_1631+180delinsCTG	NP_742105.1:n.1631+178_1631+180delinsCTG
NM_172108.3:c.1538+178_1538+180delinsCTG	NP_742106.1:n.1538+178_1538+180delinsCTG
XM_006723787.1:c.1631+178_1631+180delinsCTG	XP_006723850.1:n.1631+178_1631+180delinsCTG
XM_011528807.1:c.1631+178_1631+180delinsCTG	XP_011527109.1:n.1631+178_1631+180delinsCTG
XM_011528808.1:c.1628+178_1628+180delinsCTG	XP_011527110.1:n.1628+178_1628+180delinsCTG
XM_011528809.1:c.1601+178_1601+180delinsCTG	XP_011527111.1:n.1601+178_1601+180delinsCTG
XM_011528810.1:c.1577+178_1577+180delinsCTG	XP_011527112.1:n.1577+178_1577+180delinsCTG
XM_011528811.1:c.1547+178_1547+180delinsCTG	XP_011527113.1:n.1547+178_1547+180delinsCTG
XM_011528812.1:c.1628+178_1628+180delinsCTG	XP_011527114.1:n.1628+178_1628+180delinsCTG
XM_011528813.1:c.1505+178_1505+180delinsCTG	XP_011527115.1:n.1505+178_1505+180delinsCTG
XM_011528814.1:c.1112+178_1112+180delinsCTG	XP_011527116.1:n.1112+178_1112+180delinsCTG
XM_011528815.1:c.1631+178_1631+180delinsCTG	XP_011527117.1:n.1631+178_1631+180delinsCTG
NM_004518.5:c.1547+178_1547+180delinsCTG	NP_004509.2:n.1547+178_1547+180delinsCTG
NM_172106.2:c.1577+178_1577+180delinsCTG	NP_742104.1:n.1577+178_1577+180delinsCTG
NM_172107.3:c.1631+178_1631+180delinsCTG	NP_742105.1:n.1631+178_1631+180delinsCTG
NM_172108.4:c.1538+178_1538+180delinsCTG	NP_742106.1:n.1538+178_1538+180delinsCTG
XM_011528810.2:c.1577+178_1577+180delinsCTG	XP_011527112.1:n.1577+178_1577+180delinsCTG
XM_011528811.2:c.1547+178_1547+180delinsCTG	XP_011527113.1:n.1547+178_1547+180delinsCTG
XM_017027841.2:c.1574+178_1574+180delinsCTG	XP_016883330.1:n.1574+178_1574+180delinsCTG
XM_017027842.2:c.1577+178_1577+180delinsCTG	XP_016883331.1:n.1577+178_1577+180delinsCTG
XM_017027843.1:c.1508+178_1508+180delinsCTG	XP_016883332.1:n.1508+178_1508+180delinsCTG
XM_017027844.2:c.1574+178_1574+180delinsCTG	XP_016883333.1:n.1574+178_1574+180delinsCTG
XM_017027845.1:c.539+178_539+180delinsCTG	XP_016883334.1:n.539+178_539+180delinsCTG
NM_004518.6:c.1547+178_1547+180delinsCTG	NP_004509.2:n.1547+178_1547+180delinsCTG
NM_172106.3:c.1577+178_1577+180delinsCTG	NP_742104.1:n.1577+178_1577+180delinsCTG
NM_172107.4:c.1631+178_1631+180delinsCTG MANE Select	NP_742105.1:n.1631+178_1631+180delinsCTG
NM_172108.5:c.1538+178_1538+180delinsCTG	NP_742106.1:n.1538+178_1538+180delinsCTG
NM_001382235.1:c.1577+178_1577+180delinsCTG	NP_001369164.1:n.1577+178_1577+180delinsCTG