Canonical Allele Identifier: CA1019285464

Gene: KCNQ2

Linked Data

• gnomAD v3: 20-63446907-TCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACG-T
• gnomAD v4: 20-63446907-TCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63446927_63446986del , CM000682.2:g.63446927_63446986del	GRCh38
NC_000020.10:g.62078280_62078339del , CM000682.1:g.62078280_62078339del	GRCh37
NC_000020.9:g.61548724_61548783del	NCBI36
NG_009004.1:g.30674_30733del
NG_009004.2:g.30674_30733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.297-130_297-71del	ENSP00000516702.1:n.297-130_297-71del
ENST00000344425.8:c.297-130_297-71del	ENSP00000345523.5:n.297-130_297-71del
ENST00000359125.7:c.297-130_297-71del MANE Select	ENSP00000352035.2:n.297-130_297-71del
ENST00000636042.1:n.77-130_77-71del
ENST00000636065.1:n.83-130_83-71del
ENST00000636255.1:n.35-130_35-71del
ENST00000636591.1:n.73-130_73-71del
ENST00000636623.1:n.58-130_58-71del
ENST00000636959.1:n.89-130_89-71del
ENST00000637133.1:n.70-130_70-71del
ENST00000637193.1:c.-223-130_-223-71del	ENSP00000490734.1:n.-223-130_-223-71del
ENST00000637772.1:n.30-130_30-71del
ENST00000637803.1:n.95-130_95-71del
ENST00000344425.7:c.297-130_297-71del	ENSP00000345523.5:n.297-130_297-71del
ENST00000344462.8:c.297-130_297-71del	ENSP00000339611.4:n.297-130_297-71del
ENST00000359125.6:c.297-130_297-71del	ENSP00000352035.2:n.297-130_297-71del
ENST00000360480.7:c.297-130_297-71del	ENSP00000353668.3:n.297-130_297-71del
ENST00000370221.3:n.423-130_423-71del
ENST00000370224.5:c.297-130_297-71del	ENSP00000359244.2:n.297-130_297-71del
ENST00000625514.2:c.297-130_297-71del	ENSP00000486040.1:n.297-130_297-71del
ENST00000626313.1:n.139-130_139-71del
ENST00000626839.2:c.297-130_297-71del	ENSP00000486706.1:n.297-130_297-71del
ENST00000629241.2:c.297-130_297-71del	ENSP00000487142.1:n.297-130_297-71del
ENST00000629676.2:c.297-130_297-71del	ENSP00000486194.1:n.297-130_297-71del
NM_004518.4:c.297-130_297-71del	NP_004509.2:n.297-130_297-71del
NM_172106.1:c.297-130_297-71del	NP_742104.1:n.297-130_297-71del
NM_172107.2:c.297-130_297-71del	NP_742105.1:n.297-130_297-71del
NM_172108.3:c.297-130_297-71del	NP_742106.1:n.297-130_297-71del
NM_172109.1:c.297-130_297-71del	NP_742107.1:n.297-130_297-71del
XM_006723787.1:c.297-130_297-71del	XP_006723850.1:n.297-130_297-71del
XM_011528807.1:c.297-130_297-71del	XP_011527109.1:n.297-130_297-71del
XM_011528808.1:c.297-130_297-71del	XP_011527110.1:n.297-130_297-71del
XM_011528809.1:c.297-130_297-71del	XP_011527111.1:n.297-130_297-71del
XM_011528810.1:c.297-130_297-71del	XP_011527112.1:n.297-130_297-71del
XM_011528811.1:c.297-130_297-71del	XP_011527113.1:n.297-130_297-71del
XM_011528812.1:c.297-130_297-71del	XP_011527114.1:n.297-130_297-71del
XM_011528813.1:c.297-130_297-71del	XP_011527115.1:n.297-130_297-71del
XM_011528815.1:c.297-130_297-71del	XP_011527117.1:n.297-130_297-71del
XM_011528816.1:c.297-130_297-71del	XP_011527118.1:n.297-130_297-71del
NM_004518.5:c.297-130_297-71del	NP_004509.2:n.297-130_297-71del
NM_172106.2:c.297-130_297-71del	NP_742104.1:n.297-130_297-71del
NM_172107.3:c.297-130_297-71del	NP_742105.1:n.297-130_297-71del
NM_172108.4:c.297-130_297-71del	NP_742106.1:n.297-130_297-71del
NM_172109.2:c.297-130_297-71del	NP_742107.1:n.297-130_297-71del
XM_011528810.2:c.297-130_297-71del	XP_011527112.1:n.297-130_297-71del
XM_011528811.2:c.297-130_297-71del	XP_011527113.1:n.297-130_297-71del
XM_017027841.2:c.297-130_297-71del	XP_016883330.1:n.297-130_297-71del
XM_017027842.2:c.297-130_297-71del	XP_016883331.1:n.297-130_297-71del
XM_017027843.1:c.228-130_228-71del	XP_016883332.1:n.228-130_228-71del
XM_017027844.2:c.297-130_297-71del	XP_016883333.1:n.297-130_297-71del
NM_004518.6:c.297-130_297-71del	NP_004509.2:n.297-130_297-71del
NM_172106.3:c.297-130_297-71del	NP_742104.1:n.297-130_297-71del
NM_172107.4:c.297-130_297-71del MANE Select	NP_742105.1:n.297-130_297-71del
NM_172108.5:c.297-130_297-71del	NP_742106.1:n.297-130_297-71del
NM_172109.3:c.297-130_297-71del	NP_742107.1:n.297-130_297-71del
NM_001382235.1:c.297-130_297-71del	NP_001369164.1:n.297-130_297-71del