Canonical Allele Identifier: CA2374781362

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63419673_63419674delinsCT , CM000682.2:g.63419673_63419674delinsCT	GRCh38
NC_000020.10:g.62051026_62051027delinsCT , CM000682.1:g.62051026_62051027delinsCT	GRCh37
NC_000020.9:g.61521470_61521471delinsCT	NCBI36
NG_009004.1:g.57967_57968delinsAG
NG_009004.2:g.57967_57968delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1247+4503_1247+4504delinsAG	ENSP00000516702.1:n.1247+4503_1247+4504delinsAG
ENST00000359125.7:c.1248-2_1248-1delinsAG MANE Select	ENSP00000352035.2:n.1248-2_1248-1delinsAG
ENST00000635867.1:n.72-2_72-1delinsAG
ENST00000637193.1:c.698+4503_698+4504delinsAG	ENSP00000490734.1:n.698+4503_698+4504delinsAG
ENST00000637584.1:n.74+4413_74+4414delinsAG
ENST00000344462.8:c.1247+4503_1247+4504delinsAG	ENSP00000339611.4:n.1247+4503_1247+4504delinsAG
ENST00000357249.6:c.905+4503_905+4504delinsAG	ENSP00000349789.3:n.905+4503_905+4504delinsAG
ENST00000359125.6:c.1248-2_1248-1delinsAG	ENSP00000352035.2:n.1248-2_1248-1delinsAG
ENST00000360480.7:c.1217+4503_1217+4504delinsAG	ENSP00000353668.3:n.1217+4503_1217+4504delinsAG
ENST00000370224.5:c.1217+4503_1217+4504delinsAG	ENSP00000359244.2:n.1217+4503_1217+4504delinsAG
ENST00000625514.2:c.1217+4503_1217+4504delinsAG	ENSP00000486040.1:n.1217+4503_1217+4504delinsAG
ENST00000626839.2:c.1247+4503_1247+4504delinsAG	ENSP00000486706.1:n.1247+4503_1247+4504delinsAG
ENST00000627221.2:c.361+4503_361+4504delinsAG
ENST00000629241.2:c.1217+4503_1217+4504delinsAG	ENSP00000487142.1:n.1217+4503_1217+4504delinsAG
ENST00000629676.2:c.1217+4503_1217+4504delinsAG	ENSP00000486194.1:n.1217+4503_1217+4504delinsAG
NM_004518.4:c.1217+4503_1217+4504delinsAG	NP_004509.2:n.1217+4503_1217+4504delinsAG
NM_172106.1:c.1247+4503_1247+4504delinsAG	NP_742104.1:n.1247+4503_1247+4504delinsAG
NM_172107.2:c.1248-2_1248-1delinsAG	NP_742105.1:n.1248-2_1248-1delinsAG
NM_172108.3:c.1247+4503_1247+4504delinsAG	NP_742106.1:n.1247+4503_1247+4504delinsAG
XM_006723787.1:c.1248-2_1248-1delinsAG	XP_006723850.1:n.1248-2_1248-1delinsAG
XM_011528807.1:c.1248-2_1248-1delinsAG	XP_011527109.1:n.1248-2_1248-1delinsAG
XM_011528808.1:c.1248-2_1248-1delinsAG	XP_011527110.1:n.1248-2_1248-1delinsAG
XM_011528809.1:c.1218-2_1218-1delinsAG	XP_011527111.1:n.1218-2_1218-1delinsAG
XM_011528810.1:c.1247+4503_1247+4504delinsAG	XP_011527112.1:n.1247+4503_1247+4504delinsAG
XM_011528811.1:c.1217+4503_1217+4504delinsAG	XP_011527113.1:n.1217+4503_1217+4504delinsAG
XM_011528812.1:c.1248-2_1248-1delinsAG	XP_011527114.1:n.1248-2_1248-1delinsAG
XM_011528813.1:c.1122-2_1122-1delinsAG	XP_011527115.1:n.1122-2_1122-1delinsAG
XM_011528814.1:c.729-2_729-1delinsAG	XP_011527116.1:n.729-2_729-1delinsAG
XM_011528815.1:c.1248-2_1248-1delinsAG	XP_011527117.1:n.1248-2_1248-1delinsAG
NM_004518.5:c.1217+4503_1217+4504delinsAG	NP_004509.2:n.1217+4503_1217+4504delinsAG
NM_172106.2:c.1247+4503_1247+4504delinsAG	NP_742104.1:n.1247+4503_1247+4504delinsAG
NM_172107.3:c.1248-2_1248-1delinsAG	NP_742105.1:n.1248-2_1248-1delinsAG
NM_172108.4:c.1247+4503_1247+4504delinsAG	NP_742106.1:n.1247+4503_1247+4504delinsAG
XM_011528810.2:c.1247+4503_1247+4504delinsAG	XP_011527112.1:n.1247+4503_1247+4504delinsAG
XM_011528811.2:c.1217+4503_1217+4504delinsAG	XP_011527113.1:n.1217+4503_1217+4504delinsAG
XM_017027841.2:c.1247+4503_1247+4504delinsAG	XP_016883330.1:n.1247+4503_1247+4504delinsAG
XM_017027842.2:c.1247+4503_1247+4504delinsAG	XP_016883331.1:n.1247+4503_1247+4504delinsAG
XM_017027843.1:c.1178+4503_1178+4504delinsAG	XP_016883332.1:n.1178+4503_1178+4504delinsAG
XM_017027844.2:c.1247+4503_1247+4504delinsAG	XP_016883333.1:n.1247+4503_1247+4504delinsAG
XM_017027845.1:c.154_155delinsAG	XP_016883334.1:p.Ser52=
NM_004518.6:c.1217+4503_1217+4504delinsAG	NP_004509.2:n.1217+4503_1217+4504delinsAG
NM_172106.3:c.1247+4503_1247+4504delinsAG	NP_742104.1:n.1247+4503_1247+4504delinsAG
NM_172107.4:c.1248-2_1248-1delinsAG MANE Select	NP_742105.1:n.1248-2_1248-1delinsAG
NM_172108.5:c.1247+4503_1247+4504delinsAG	NP_742106.1:n.1247+4503_1247+4504delinsAG
NM_001382235.1:c.1247+4503_1247+4504delinsAG	NP_001369164.1:n.1247+4503_1247+4504delinsAG