Canonical Allele Identifier: CA2577453439

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414046_63414050del , CM000682.2:g.63414046_63414050del	GRCh38
NC_000020.10:g.62045399_62045403del , CM000682.1:g.62045399_62045403del	GRCh37
NC_000020.9:g.61515843_61515847del	NCBI36
NG_009004.1:g.63593_63597del
NG_009004.2:g.63593_63597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1577+40_1577+44del	ENSP00000516702.1:n.1577+40_1577+44del
ENST00000359125.7:c.1631+40_1631+44del MANE Select	ENSP00000352035.2:n.1631+40_1631+44del
ENST00000637193.1:c.1028+40_1028+44del	ENSP00000490734.1:n.1028+40_1028+44del
ENST00000344462.8:c.1538+40_1538+44del	ENSP00000339611.4:n.1538+40_1538+44del
ENST00000357249.6:c.1199+40_1199+44del	ENSP00000349789.3:n.1199+40_1199+44del
ENST00000359125.6:c.1631+40_1631+44del	ENSP00000352035.2:n.1631+40_1631+44del
ENST00000360480.7:c.1547+40_1547+44del	ENSP00000353668.3:n.1547+40_1547+44del
ENST00000370224.5:c.1547+40_1547+44del	ENSP00000359244.2:n.1547+40_1547+44del
ENST00000625514.2:c.1511+40_1511+44del	ENSP00000486040.1:n.1511+40_1511+44del
ENST00000626839.2:c.1577+40_1577+44del	ENSP00000486706.1:n.1577+40_1577+44del
ENST00000629241.2:c.1547+40_1547+44del	ENSP00000487142.1:n.1547+40_1547+44del
ENST00000629318.1:c.239+40_239+44del	ENSP00000487384.1:n.239+40_239+44del
ENST00000629676.2:c.1547+40_1547+44del	ENSP00000486194.1:n.1547+40_1547+44del
NM_004518.4:c.1547+40_1547+44del	NP_004509.2:n.1547+40_1547+44del
NM_172106.1:c.1577+40_1577+44del	NP_742104.1:n.1577+40_1577+44del
NM_172107.2:c.1631+40_1631+44del	NP_742105.1:n.1631+40_1631+44del
NM_172108.3:c.1538+40_1538+44del	NP_742106.1:n.1538+40_1538+44del
XM_006723787.1:c.1631+40_1631+44del	XP_006723850.1:n.1631+40_1631+44del
XM_011528807.1:c.1631+40_1631+44del	XP_011527109.1:n.1631+40_1631+44del
XM_011528808.1:c.1628+40_1628+44del	XP_011527110.1:n.1628+40_1628+44del
XM_011528809.1:c.1601+40_1601+44del	XP_011527111.1:n.1601+40_1601+44del
XM_011528810.1:c.1577+40_1577+44del	XP_011527112.1:n.1577+40_1577+44del
XM_011528811.1:c.1547+40_1547+44del	XP_011527113.1:n.1547+40_1547+44del
XM_011528812.1:c.1628+40_1628+44del	XP_011527114.1:n.1628+40_1628+44del
XM_011528813.1:c.1505+40_1505+44del	XP_011527115.1:n.1505+40_1505+44del
XM_011528814.1:c.1112+40_1112+44del	XP_011527116.1:n.1112+40_1112+44del
XM_011528815.1:c.1631+40_1631+44del	XP_011527117.1:n.1631+40_1631+44del
NM_004518.5:c.1547+40_1547+44del	NP_004509.2:n.1547+40_1547+44del
NM_172106.2:c.1577+40_1577+44del	NP_742104.1:n.1577+40_1577+44del
NM_172107.3:c.1631+40_1631+44del	NP_742105.1:n.1631+40_1631+44del
NM_172108.4:c.1538+40_1538+44del	NP_742106.1:n.1538+40_1538+44del
XM_011528810.2:c.1577+40_1577+44del	XP_011527112.1:n.1577+40_1577+44del
XM_011528811.2:c.1547+40_1547+44del	XP_011527113.1:n.1547+40_1547+44del
XM_017027841.2:c.1574+40_1574+44del	XP_016883330.1:n.1574+40_1574+44del
XM_017027842.2:c.1577+40_1577+44del	XP_016883331.1:n.1577+40_1577+44del
XM_017027843.1:c.1508+40_1508+44del	XP_016883332.1:n.1508+40_1508+44del
XM_017027844.2:c.1574+40_1574+44del	XP_016883333.1:n.1574+40_1574+44del
XM_017027845.1:c.539+40_539+44del	XP_016883334.1:n.539+40_539+44del
NM_004518.6:c.1547+40_1547+44del	NP_004509.2:n.1547+40_1547+44del
NM_172106.3:c.1577+40_1577+44del	NP_742104.1:n.1577+40_1577+44del
NM_172107.4:c.1631+40_1631+44del MANE Select	NP_742105.1:n.1631+40_1631+44del
NM_172108.5:c.1538+40_1538+44del	NP_742106.1:n.1538+40_1538+44del
NM_001382235.1:c.1577+40_1577+44del	NP_001369164.1:n.1577+40_1577+44del