Canonical Allele Identifier: CA746451512

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1283768047
• gnomAD v3: 20-63433665-CCA-C
• gnomAD v4: 20-63433665-CCA-C
• MyVariant Identifiers: chr20:g.62065019_62065020del (hg19) ; chr20:g.63433666_63433667del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63433672_63433673del , CM000682.2:g.63433672_63433673del	GRCh38
NC_000020.10:g.62065025_62065026del , CM000682.1:g.62065025_62065026del	GRCh37
NC_000020.9:g.61535469_61535470del	NCBI36
NG_009004.1:g.43974_43975del
NG_009004.2:g.43974_43975del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1118+142_1118+143del	ENSP00000516702.1:n.1118+142_1118+143del
ENST00000359125.7:c.1118+142_1118+143del MANE Select	ENSP00000352035.2:n.1118+142_1118+143del
ENST00000635864.1:n.46_47del
ENST00000637193.1:c.599+142_599+143del	ENSP00000490734.1:n.599+142_599+143del
ENST00000637890.1:n.69-127_69-126del
ENST00000344462.8:c.1118+142_1118+143del	ENSP00000339611.4:n.1118+142_1118+143del
ENST00000357249.6:c.776+142_776+143del	ENSP00000349789.3:n.776+142_776+143del
ENST00000359125.6:c.1118+142_1118+143del	ENSP00000352035.2:n.1118+142_1118+143del
ENST00000360480.7:c.1118+142_1118+143del	ENSP00000353668.3:n.1118+142_1118+143del
ENST00000370221.3:n.1244+142_1244+143del
ENST00000370224.5:c.1118+142_1118+143del	ENSP00000359244.2:n.1118+142_1118+143del
ENST00000625514.2:c.1118+142_1118+143del	ENSP00000486040.1:n.1118+142_1118+143del
ENST00000626839.2:c.1118+142_1118+143del	ENSP00000486706.1:n.1118+142_1118+143del
ENST00000627221.2:c.262+142_262+143del
ENST00000629241.2:c.1118+142_1118+143del	ENSP00000487142.1:n.1118+142_1118+143del
ENST00000629676.2:c.1118+142_1118+143del	ENSP00000486194.1:n.1118+142_1118+143del
NM_004518.4:c.1118+142_1118+143del	NP_004509.2:n.1118+142_1118+143del
NM_172106.1:c.1118+142_1118+143del	NP_742104.1:n.1118+142_1118+143del
NM_172107.2:c.1118+142_1118+143del	NP_742105.1:n.1118+142_1118+143del
NM_172108.3:c.1118+142_1118+143del	NP_742106.1:n.1118+142_1118+143del
XM_006723787.1:c.1118+142_1118+143del	XP_006723850.1:n.1118+142_1118+143del
XM_011528807.1:c.1118+142_1118+143del	XP_011527109.1:n.1118+142_1118+143del
XM_011528808.1:c.1118+142_1118+143del	XP_011527110.1:n.1118+142_1118+143del
XM_011528809.1:c.1118+142_1118+143del	XP_011527111.1:n.1118+142_1118+143del
XM_011528810.1:c.1118+142_1118+143del	XP_011527112.1:n.1118+142_1118+143del
XM_011528811.1:c.1118+142_1118+143del	XP_011527113.1:n.1118+142_1118+143del
XM_011528812.1:c.1118+142_1118+143del	XP_011527114.1:n.1118+142_1118+143del
XM_011528813.1:c.992+142_992+143del	XP_011527115.1:n.992+142_992+143del
XM_011528814.1:c.599+142_599+143del	XP_011527116.1:n.599+142_599+143del
XM_011528815.1:c.1118+142_1118+143del	XP_011527117.1:n.1118+142_1118+143del
NM_004518.5:c.1118+142_1118+143del	NP_004509.2:n.1118+142_1118+143del
NM_172106.2:c.1118+142_1118+143del	NP_742104.1:n.1118+142_1118+143del
NM_172107.3:c.1118+142_1118+143del	NP_742105.1:n.1118+142_1118+143del
NM_172108.4:c.1118+142_1118+143del	NP_742106.1:n.1118+142_1118+143del
XM_011528810.2:c.1118+142_1118+143del	XP_011527112.1:n.1118+142_1118+143del
XM_011528811.2:c.1118+142_1118+143del	XP_011527113.1:n.1118+142_1118+143del
XM_017027841.2:c.1118+142_1118+143del	XP_016883330.1:n.1118+142_1118+143del
XM_017027842.2:c.1118+142_1118+143del	XP_016883331.1:n.1118+142_1118+143del
XM_017027843.1:c.1049+142_1049+143del	XP_016883332.1:n.1049+142_1049+143del
XM_017027844.2:c.1118+142_1118+143del	XP_016883333.1:n.1118+142_1118+143del
NM_004518.6:c.1118+142_1118+143del	NP_004509.2:n.1118+142_1118+143del
NM_172106.3:c.1118+142_1118+143del	NP_742104.1:n.1118+142_1118+143del
NM_172107.4:c.1118+142_1118+143del MANE Select	NP_742105.1:n.1118+142_1118+143del
NM_172108.5:c.1118+142_1118+143del	NP_742106.1:n.1118+142_1118+143del
NM_001382235.1:c.1118+142_1118+143del	NP_001369164.1:n.1118+142_1118+143del