Canonical Allele Identifier: CA2653799917

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63438823-GGGTCAGACCACACTCCAGAGACTCACACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63438824_63438852del , CM000682.2:g.63438824_63438852del	GRCh38
NC_000020.10:g.62070177_62070205del , CM000682.1:g.62070177_62070205del	GRCh37
NC_000020.9:g.61540621_61540649del	NCBI36
NG_009004.1:g.38789_38817del
NG_009004.2:g.38789_38817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.928-132_928-104del	ENSP00000516702.1:n.928-132_928-104del
ENST00000344425.8:c.928-132_928-104del	ENSP00000345523.5:n.928-132_928-104del
ENST00000359125.7:c.928-132_928-104del MANE Select	ENSP00000352035.2:n.928-132_928-104del
ENST00000636255.1:n.666-132_666-104del
ENST00000637193.1:c.409-132_409-104del	ENSP00000490734.1:n.409-132_409-104del
ENST00000344425.7:c.928-132_928-104del	ENSP00000345523.5:n.928-132_928-104del
ENST00000344462.8:c.928-132_928-104del	ENSP00000339611.4:n.928-132_928-104del
ENST00000357249.6:c.586-132_586-104del	ENSP00000349789.3:n.586-132_586-104del
ENST00000359125.6:c.928-132_928-104del	ENSP00000352035.2:n.928-132_928-104del
ENST00000360480.7:c.928-132_928-104del	ENSP00000353668.3:n.928-132_928-104del
ENST00000370221.3:n.1054-132_1054-104del
ENST00000370224.5:c.928-132_928-104del	ENSP00000359244.2:n.928-132_928-104del
ENST00000625514.2:c.928-132_928-104del	ENSP00000486040.1:n.928-132_928-104del
ENST00000626684.1:c.293-132_293-104del
ENST00000626839.2:c.928-132_928-104del	ENSP00000486706.1:n.928-132_928-104del
ENST00000627221.2:c.72-132_72-104del
ENST00000629241.2:c.928-132_928-104del	ENSP00000487142.1:n.928-132_928-104del
ENST00000629498.2:c.431-162_431-134del	ENSP00000486509.1:n.431-162_431-134del
ENST00000629676.2:c.928-132_928-104del	ENSP00000486194.1:n.928-132_928-104del
ENST00000630274.2:n.753-132_753-104del
NM_004518.4:c.928-132_928-104del	NP_004509.2:n.928-132_928-104del
NM_172106.1:c.928-132_928-104del	NP_742104.1:n.928-132_928-104del
NM_172107.2:c.928-132_928-104del	NP_742105.1:n.928-132_928-104del
NM_172108.3:c.928-132_928-104del	NP_742106.1:n.928-132_928-104del
NM_172109.1:c.928-132_928-104del	NP_742107.1:n.928-132_928-104del
XM_006723787.1:c.928-132_928-104del	XP_006723850.1:n.928-132_928-104del
XM_011528807.1:c.928-132_928-104del	XP_011527109.1:n.928-132_928-104del
XM_011528808.1:c.928-132_928-104del	XP_011527110.1:n.928-132_928-104del
XM_011528809.1:c.928-132_928-104del	XP_011527111.1:n.928-132_928-104del
XM_011528810.1:c.928-132_928-104del	XP_011527112.1:n.928-132_928-104del
XM_011528811.1:c.928-132_928-104del	XP_011527113.1:n.928-132_928-104del
XM_011528812.1:c.928-132_928-104del	XP_011527114.1:n.928-132_928-104del
XM_011528813.1:c.802-132_802-104del	XP_011527115.1:n.802-132_802-104del
XM_011528814.1:c.409-132_409-104del	XP_011527116.1:n.409-132_409-104del
XM_011528815.1:c.928-132_928-104del	XP_011527117.1:n.928-132_928-104del
XM_011528816.1:c.928-132_928-104del	XP_011527118.1:n.928-132_928-104del
NM_004518.5:c.928-132_928-104del	NP_004509.2:n.928-132_928-104del
NM_172106.2:c.928-132_928-104del	NP_742104.1:n.928-132_928-104del
NM_172107.3:c.928-132_928-104del	NP_742105.1:n.928-132_928-104del
NM_172108.4:c.928-132_928-104del	NP_742106.1:n.928-132_928-104del
NM_172109.2:c.928-132_928-104del	NP_742107.1:n.928-132_928-104del
XM_011528810.2:c.928-132_928-104del	XP_011527112.1:n.928-132_928-104del
XM_011528811.2:c.928-132_928-104del	XP_011527113.1:n.928-132_928-104del
XM_017027841.2:c.928-132_928-104del	XP_016883330.1:n.928-132_928-104del
XM_017027842.2:c.928-132_928-104del	XP_016883331.1:n.928-132_928-104del
XM_017027843.1:c.859-132_859-104del	XP_016883332.1:n.859-132_859-104del
XM_017027844.2:c.928-132_928-104del	XP_016883333.1:n.928-132_928-104del
NM_004518.6:c.928-132_928-104del	NP_004509.2:n.928-132_928-104del
NM_172106.3:c.928-132_928-104del	NP_742104.1:n.928-132_928-104del
NM_172107.4:c.928-132_928-104del MANE Select	NP_742105.1:n.928-132_928-104del
NM_172108.5:c.928-132_928-104del	NP_742106.1:n.928-132_928-104del
NM_172109.3:c.928-132_928-104del	NP_742107.1:n.928-132_928-104del
NM_001382235.1:c.928-132_928-104del	NP_001369164.1:n.928-132_928-104del