Canonical Allele Identifier: CA409639012

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407171-G-T
• MyVariant Identifiers: chr20:g.62038524G>T (hg19) ; chr20:g.63407171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407171G>T , CM000682.2:g.63407171G>T	GRCh38
NC_000020.10:g.62038524G>T , CM000682.1:g.62038524G>T	GRCh37
NC_000020.9:g.61508968G>T	NCBI36
NG_009004.1:g.70470C>A
NG_009004.2:g.70470C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2146C>A	ENSP00000516702.1:p.Gln716Lys
ENST00000359125.7:c.2092C>A MANE Select	ENSP00000352035.2:p.Gln698Lys
ENST00000637193.1:c.1489C>A	ENSP00000490734.1:p.Gln497Lys
ENST00000344462.8:c.1999C>A	ENSP00000339611.4:p.Gln667Lys
ENST00000357249.6:c.1660C>A	ENSP00000349789.3:p.Gln554Lys
ENST00000359125.6:c.2092C>A	ENSP00000352035.2:p.Gln698Lys
ENST00000360480.7:c.2008C>A	ENSP00000353668.3:p.Gln670Lys
ENST00000370224.5:c.2116C>A	ENSP00000359244.2:p.Gln706Lys
ENST00000625514.2:c.2080C>A	ENSP00000486040.1:p.Gln694Lys
ENST00000626839.2:c.2038C>A	ENSP00000486706.1:p.Gln680Lys
ENST00000629241.2:c.2008C>A	ENSP00000487142.1:p.Gln670Lys
ENST00000629676.2:c.1679+6279C>A	ENSP00000486194.1:n.1679+6279C>A
NM_004518.4:c.2008C>A	NP_004509.2:p.Gln670Lys
NM_172106.1:c.2038C>A	NP_742104.1:p.Gln680Lys
NM_172107.2:c.2092C>A	NP_742105.1:p.Gln698Lys
NM_172108.3:c.1999C>A	NP_742106.1:p.Gln667Lys
XM_006723787.1:c.2134C>A	XP_006723850.1:p.Gln712Lys
XM_011528807.1:c.2200C>A	XP_011527109.1:p.Gln734Lys
XM_011528808.1:c.2197C>A	XP_011527110.1:p.Gln733Lys
XM_011528809.1:c.2170C>A	XP_011527111.1:p.Gln724Lys
XM_011528810.1:c.2146C>A	XP_011527112.1:p.Gln716Lys
XM_011528811.1:c.2116C>A	XP_011527113.1:p.Gln706Lys
XM_011528812.1:c.2089C>A	XP_011527114.1:p.Gln697Lys
XM_011528813.1:c.2074C>A	XP_011527115.1:p.Gln692Lys
XM_011528814.1:c.1681C>A	XP_011527116.1:p.Gln561Lys
NM_004518.5:c.2008C>A	NP_004509.2:p.Gln670Lys
NM_172106.2:c.2038C>A	NP_742104.1:p.Gln680Lys
NM_172107.3:c.2092C>A	NP_742105.1:p.Gln698Lys
NM_172108.4:c.1999C>A	NP_742106.1:p.Gln667Lys
XM_011528810.2:c.2146C>A	XP_011527112.1:p.Gln716Lys
XM_011528811.2:c.2116C>A	XP_011527113.1:p.Gln706Lys
XM_017027841.2:c.2143C>A	XP_016883330.1:p.Gln715Lys
XM_017027842.2:c.2080C>A	XP_016883331.1:p.Gln694Lys
XM_017027843.1:c.2077C>A	XP_016883332.1:p.Gln693Lys
XM_017027844.2:c.2035C>A	XP_016883333.1:p.Gln679Lys
XM_017027845.1:c.1108C>A	XP_016883334.1:p.Gln370Lys
NM_004518.6:c.2008C>A	NP_004509.2:p.Gln670Lys
NM_172106.3:c.2038C>A	NP_742104.1:p.Gln680Lys
NM_172107.4:c.2092C>A MANE Select	NP_742105.1:p.Gln698Lys
NM_172108.5:c.1999C>A	NP_742106.1:p.Gln667Lys
NM_001382235.1:c.2146C>A	NP_001369164.1:p.Gln716Lys