Canonical Allele Identifier: CA1019277479

Gene: KCNQ2

Linked Data

• gnomAD v3: 20-63414088-C-CGAGATCT
• gnomAD v4: 20-63414088-C-CGAGATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414088_63414089insGAGATCT , CM000682.2:g.63414088_63414089insGAGATCT	GRCh38
NC_000020.10:g.62045441_62045442insGAGATCT , CM000682.1:g.62045441_62045442insGAGATCT	GRCh37
NC_000020.9:g.61515885_61515886insGAGATCT	NCBI36
NG_009004.1:g.63552_63553insAGATCTC
NG_009004.2:g.63552_63553insAGATCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1576_1577insAGATCTC	ENSP00000516702.1:p.Cys526Ter
ENST00000359125.7:c.1630_1631insAGATCTC MANE Select	ENSP00000352035.2:p.Cys544Ter
ENST00000637193.1:c.1027_1028insAGATCTC	ENSP00000490734.1:p.Cys343Ter
ENST00000344462.8:c.1537_1538insAGATCTC	ENSP00000339611.4:p.Cys513Ter
ENST00000357249.6:c.1198_1199insAGATCTC	ENSP00000349789.3:p.Cys400Ter
ENST00000359125.6:c.1630_1631insAGATCTC	ENSP00000352035.2:p.Cys544Ter
ENST00000360480.7:c.1546_1547insAGATCTC	ENSP00000353668.3:p.Cys516Ter
ENST00000370224.5:c.1546_1547insAGATCTC	ENSP00000359244.2:p.Cys516Ter
ENST00000625514.2:c.1510_1511insAGATCTC	ENSP00000486040.1:p.Cys504Ter
ENST00000626839.2:c.1576_1577insAGATCTC	ENSP00000486706.1:p.Cys526Ter
ENST00000627221.2:c.687_688insAGATCTC
ENST00000629241.2:c.1546_1547insAGATCTC	ENSP00000487142.1:p.Cys516Ter
ENST00000629318.1:c.238_239insAGATCTC	ENSP00000487384.1:p.Cys80Ter
ENST00000629676.2:c.1546_1547insAGATCTC	ENSP00000486194.1:p.Cys516Ter
NM_004518.4:c.1546_1547insAGATCTC	NP_004509.2:p.Cys516Ter
NM_172106.1:c.1576_1577insAGATCTC	NP_742104.1:p.Cys526Ter
NM_172107.2:c.1630_1631insAGATCTC	NP_742105.1:p.Cys544Ter
NM_172108.3:c.1537_1538insAGATCTC	NP_742106.1:p.Cys513Ter
XM_006723787.1:c.1630_1631insAGATCTC	XP_006723850.1:p.Cys544Ter
XM_011528807.1:c.1630_1631insAGATCTC	XP_011527109.1:p.Cys544Ter
XM_011528808.1:c.1627_1628insAGATCTC	XP_011527110.1:p.Cys543Ter
XM_011528809.1:c.1600_1601insAGATCTC	XP_011527111.1:p.Cys534Ter
XM_011528810.1:c.1576_1577insAGATCTC	XP_011527112.1:p.Cys526Ter
XM_011528811.1:c.1546_1547insAGATCTC	XP_011527113.1:p.Cys516Ter
XM_011528812.1:c.1627_1628insAGATCTC	XP_011527114.1:p.Cys543Ter
XM_011528813.1:c.1504_1505insAGATCTC	XP_011527115.1:p.Cys502Ter
XM_011528814.1:c.1111_1112insAGATCTC	XP_011527116.1:p.Cys371Ter
XM_011528815.1:c.1630_1631insAGATCTC	XP_011527117.1:p.Cys544Ter
NM_004518.5:c.1546_1547insAGATCTC	NP_004509.2:p.Cys516Ter
NM_172106.2:c.1576_1577insAGATCTC	NP_742104.1:p.Cys526Ter
NM_172107.3:c.1630_1631insAGATCTC	NP_742105.1:p.Cys544Ter
NM_172108.4:c.1537_1538insAGATCTC	NP_742106.1:p.Cys513Ter
XM_011528810.2:c.1576_1577insAGATCTC	XP_011527112.1:p.Cys526Ter
XM_011528811.2:c.1546_1547insAGATCTC	XP_011527113.1:p.Cys516Ter
XM_017027841.2:c.1573_1574insAGATCTC	XP_016883330.1:p.Cys525Ter
XM_017027842.2:c.1576_1577insAGATCTC	XP_016883331.1:p.Cys526Ter
XM_017027843.1:c.1507_1508insAGATCTC	XP_016883332.1:p.Cys503Ter
XM_017027844.2:c.1573_1574insAGATCTC	XP_016883333.1:p.Cys525Ter
XM_017027845.1:c.538_539insAGATCTC	XP_016883334.1:p.Cys180Ter
NM_004518.6:c.1546_1547insAGATCTC	NP_004509.2:p.Cys516Ter
NM_172106.3:c.1576_1577insAGATCTC	NP_742104.1:p.Cys526Ter
NM_172107.4:c.1630_1631insAGATCTC MANE Select	NP_742105.1:p.Cys544Ter
NM_172108.5:c.1537_1538insAGATCTC	NP_742106.1:p.Cys513Ter
NM_001382235.1:c.1576_1577insAGATCTC	NP_001369164.1:p.Cys526Ter