Canonical Allele Identifier: CA2374778802

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414994_63415004delinsGCTGGGGCTGT , CM000682.2:g.63414994_63415004delinsGCTGGGGCTGT	GRCh38
NC_000020.10:g.62046347_62046357delinsGCTGGGGCTGT , CM000682.1:g.62046347_62046357delinsGCTGGGGCTGT	GRCh37
NC_000020.9:g.61516791_61516801delinsGCTGGGGCTGT	NCBI36
NG_009004.1:g.62637_62647delinsACAGCCCCAGC
NG_009004.2:g.62637_62647delinsACAGCCCCAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1370_1380delinsACAGCCCCAGC	ENSP00000516702.1:p.Asp457=
ENST00000359125.7:c.1424_1434delinsACAGCCCCAGC MANE Select	ENSP00000352035.2:p.Asp475=
ENST00000637193.1:c.821_831delinsACAGCCCCAGC	ENSP00000490734.1:p.Asp274=
ENST00000344462.8:c.1334_1344delinsACAGCCCCAGC	ENSP00000339611.4:p.Asp445=
ENST00000357249.6:c.992_1002delinsACAGCCCCAGC	ENSP00000349789.3:p.Asp331=
ENST00000359125.6:c.1424_1434delinsACAGCCCCAGC	ENSP00000352035.2:p.Asp475=
ENST00000360480.7:c.1340_1350delinsACAGCCCCAGC	ENSP00000353668.3:p.Asp447=
ENST00000370224.5:c.1340_1350delinsACAGCCCCAGC	ENSP00000359244.2:p.Asp447=
ENST00000625514.2:c.1304_1314delinsACAGCCCCAGC	ENSP00000486040.1:p.Asp435=
ENST00000626839.2:c.1370_1380delinsACAGCCCCAGC	ENSP00000486706.1:p.Asp457=
ENST00000627221.2:c.484_494delinsACAGCCCCAGC
ENST00000629241.2:c.1340_1350delinsACAGCCCCAGC	ENSP00000487142.1:p.Asp447=
ENST00000629318.1:c.32_42delinsACAGCCCCAGC	ENSP00000487384.1:p.Asp11=
ENST00000629676.2:c.1340_1350delinsACAGCCCCAGC	ENSP00000486194.1:p.Asp447=
NM_004518.4:c.1340_1350delinsACAGCCCCAGC	NP_004509.2:p.Asp447=
NM_172106.1:c.1370_1380delinsACAGCCCCAGC	NP_742104.1:p.Asp457=
NM_172107.2:c.1424_1434delinsACAGCCCCAGC	NP_742105.1:p.Asp475=
NM_172108.3:c.1334_1344delinsACAGCCCCAGC	NP_742106.1:p.Asp445=
XM_006723787.1:c.1424_1434delinsACAGCCCCAGC	XP_006723850.1:p.Asp475=
XM_011528807.1:c.1424_1434delinsACAGCCCCAGC	XP_011527109.1:p.Asp475=
XM_011528808.1:c.1424_1434delinsACAGCCCCAGC	XP_011527110.1:p.Asp475=
XM_011528809.1:c.1394_1404delinsACAGCCCCAGC	XP_011527111.1:p.Asp465=
XM_011528810.1:c.1370_1380delinsACAGCCCCAGC	XP_011527112.1:p.Asp457=
XM_011528811.1:c.1340_1350delinsACAGCCCCAGC	XP_011527113.1:p.Asp447=
XM_011528812.1:c.1424_1434delinsACAGCCCCAGC	XP_011527114.1:p.Asp475=
XM_011528813.1:c.1298_1308delinsACAGCCCCAGC	XP_011527115.1:p.Asp433=
XM_011528814.1:c.905_915delinsACAGCCCCAGC	XP_011527116.1:p.Asp302=
XM_011528815.1:c.1424_1434delinsACAGCCCCAGC	XP_011527117.1:p.Asp475=
NM_004518.5:c.1340_1350delinsACAGCCCCAGC	NP_004509.2:p.Asp447=
NM_172106.2:c.1370_1380delinsACAGCCCCAGC	NP_742104.1:p.Asp457=
NM_172107.3:c.1424_1434delinsACAGCCCCAGC	NP_742105.1:p.Asp475=
NM_172108.4:c.1334_1344delinsACAGCCCCAGC	NP_742106.1:p.Asp445=
XM_011528810.2:c.1370_1380delinsACAGCCCCAGC	XP_011527112.1:p.Asp457=
XM_011528811.2:c.1340_1350delinsACAGCCCCAGC	XP_011527113.1:p.Asp447=
XM_017027841.2:c.1370_1380delinsACAGCCCCAGC	XP_016883330.1:p.Asp457=
XM_017027842.2:c.1370_1380delinsACAGCCCCAGC	XP_016883331.1:p.Asp457=
XM_017027843.1:c.1301_1311delinsACAGCCCCAGC	XP_016883332.1:p.Asp434=
XM_017027844.2:c.1370_1380delinsACAGCCCCAGC	XP_016883333.1:p.Asp457=
XM_017027845.1:c.332_342delinsACAGCCCCAGC	XP_016883334.1:p.Asp111=
NM_004518.6:c.1340_1350delinsACAGCCCCAGC	NP_004509.2:p.Asp447=
NM_172106.3:c.1370_1380delinsACAGCCCCAGC	NP_742104.1:p.Asp457=
NM_172107.4:c.1424_1434delinsACAGCCCCAGC MANE Select	NP_742105.1:p.Asp475=
NM_172108.5:c.1334_1344delinsACAGCCCCAGC	NP_742106.1:p.Asp445=
NM_001382235.1:c.1370_1380delinsACAGCCCCAGC	NP_001369164.1:p.Asp457=