Canonical Allele Identifier: CA2653799330

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63413998-CCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414001_63414003del , CM000682.2:g.63414001_63414003del	GRCh38
NC_000020.10:g.62045354_62045356del , CM000682.1:g.62045354_62045356del	GRCh37
NC_000020.9:g.61515798_61515800del	NCBI36
NG_009004.1:g.63640_63642del
NG_009004.2:g.63640_63642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1577+87_1577+89del	ENSP00000516702.1:n.1577+87_1577+89del
ENST00000359125.7:c.1631+87_1631+89del MANE Select	ENSP00000352035.2:n.1631+87_1631+89del
ENST00000637193.1:c.1028+87_1028+89del	ENSP00000490734.1:n.1028+87_1028+89del
ENST00000344462.8:c.1538+87_1538+89del	ENSP00000339611.4:n.1538+87_1538+89del
ENST00000357249.6:c.1199+87_1199+89del	ENSP00000349789.3:n.1199+87_1199+89del
ENST00000359125.6:c.1631+87_1631+89del	ENSP00000352035.2:n.1631+87_1631+89del
ENST00000360480.7:c.1547+87_1547+89del	ENSP00000353668.3:n.1547+87_1547+89del
ENST00000370224.5:c.1547+87_1547+89del	ENSP00000359244.2:n.1547+87_1547+89del
ENST00000625514.2:c.1511+87_1511+89del	ENSP00000486040.1:n.1511+87_1511+89del
ENST00000626839.2:c.1577+87_1577+89del	ENSP00000486706.1:n.1577+87_1577+89del
ENST00000629241.2:c.1547+87_1547+89del	ENSP00000487142.1:n.1547+87_1547+89del
ENST00000629318.1:c.239+87_239+89del	ENSP00000487384.1:n.239+87_239+89del
ENST00000629676.2:c.1547+87_1547+89del	ENSP00000486194.1:n.1547+87_1547+89del
NM_004518.4:c.1547+87_1547+89del	NP_004509.2:n.1547+87_1547+89del
NM_172106.1:c.1577+87_1577+89del	NP_742104.1:n.1577+87_1577+89del
NM_172107.2:c.1631+87_1631+89del	NP_742105.1:n.1631+87_1631+89del
NM_172108.3:c.1538+87_1538+89del	NP_742106.1:n.1538+87_1538+89del
XM_006723787.1:c.1631+87_1631+89del	XP_006723850.1:n.1631+87_1631+89del
XM_011528807.1:c.1631+87_1631+89del	XP_011527109.1:n.1631+87_1631+89del
XM_011528808.1:c.1628+87_1628+89del	XP_011527110.1:n.1628+87_1628+89del
XM_011528809.1:c.1601+87_1601+89del	XP_011527111.1:n.1601+87_1601+89del
XM_011528810.1:c.1577+87_1577+89del	XP_011527112.1:n.1577+87_1577+89del
XM_011528811.1:c.1547+87_1547+89del	XP_011527113.1:n.1547+87_1547+89del
XM_011528812.1:c.1628+87_1628+89del	XP_011527114.1:n.1628+87_1628+89del
XM_011528813.1:c.1505+87_1505+89del	XP_011527115.1:n.1505+87_1505+89del
XM_011528814.1:c.1112+87_1112+89del	XP_011527116.1:n.1112+87_1112+89del
XM_011528815.1:c.1631+87_1631+89del	XP_011527117.1:n.1631+87_1631+89del
NM_004518.5:c.1547+87_1547+89del	NP_004509.2:n.1547+87_1547+89del
NM_172106.2:c.1577+87_1577+89del	NP_742104.1:n.1577+87_1577+89del
NM_172107.3:c.1631+87_1631+89del	NP_742105.1:n.1631+87_1631+89del
NM_172108.4:c.1538+87_1538+89del	NP_742106.1:n.1538+87_1538+89del
XM_011528810.2:c.1577+87_1577+89del	XP_011527112.1:n.1577+87_1577+89del
XM_011528811.2:c.1547+87_1547+89del	XP_011527113.1:n.1547+87_1547+89del
XM_017027841.2:c.1574+87_1574+89del	XP_016883330.1:n.1574+87_1574+89del
XM_017027842.2:c.1577+87_1577+89del	XP_016883331.1:n.1577+87_1577+89del
XM_017027843.1:c.1508+87_1508+89del	XP_016883332.1:n.1508+87_1508+89del
XM_017027844.2:c.1574+87_1574+89del	XP_016883333.1:n.1574+87_1574+89del
XM_017027845.1:c.539+87_539+89del	XP_016883334.1:n.539+87_539+89del
NM_004518.6:c.1547+87_1547+89del	NP_004509.2:n.1547+87_1547+89del
NM_172106.3:c.1577+87_1577+89del	NP_742104.1:n.1577+87_1577+89del
NM_172107.4:c.1631+87_1631+89del MANE Select	NP_742105.1:n.1631+87_1631+89del
NM_172108.5:c.1538+87_1538+89del	NP_742106.1:n.1538+87_1538+89del
NM_001382235.1:c.1577+87_1577+89del	NP_001369164.1:n.1577+87_1577+89del