Canonical Allele Identifier: CA409639008

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407170-T-A
• MyVariant Identifiers: chr20:g.62038523T>A (hg19) ; chr20:g.63407170T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407170T>A , CM000682.2:g.63407170T>A	GRCh38
NC_000020.10:g.62038523T>A , CM000682.1:g.62038523T>A	GRCh37
NC_000020.9:g.61508967T>A	NCBI36
NG_009004.1:g.70471A>T
NG_009004.2:g.70471A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2147A>T	ENSP00000516702.1:p.Gln716Leu
ENST00000359125.7:c.2093A>T MANE Select	ENSP00000352035.2:p.Gln698Leu
ENST00000637193.1:c.1490A>T	ENSP00000490734.1:p.Gln497Leu
ENST00000344462.8:c.2000A>T	ENSP00000339611.4:p.Gln667Leu
ENST00000357249.6:c.1661A>T	ENSP00000349789.3:p.Gln554Leu
ENST00000359125.6:c.2093A>T	ENSP00000352035.2:p.Gln698Leu
ENST00000360480.7:c.2009A>T	ENSP00000353668.3:p.Gln670Leu
ENST00000370224.5:c.2117A>T	ENSP00000359244.2:p.Gln706Leu
ENST00000625514.2:c.2081A>T	ENSP00000486040.1:p.Gln694Leu
ENST00000626839.2:c.2039A>T	ENSP00000486706.1:p.Gln680Leu
ENST00000629241.2:c.2009A>T	ENSP00000487142.1:p.Gln670Leu
ENST00000629676.2:c.1679+6280A>T	ENSP00000486194.1:n.1679+6280A>T
NM_004518.4:c.2009A>T	NP_004509.2:p.Gln670Leu
NM_172106.1:c.2039A>T	NP_742104.1:p.Gln680Leu
NM_172107.2:c.2093A>T	NP_742105.1:p.Gln698Leu
NM_172108.3:c.2000A>T	NP_742106.1:p.Gln667Leu
XM_006723787.1:c.2135A>T	XP_006723850.1:p.Gln712Leu
XM_011528807.1:c.2201A>T	XP_011527109.1:p.Gln734Leu
XM_011528808.1:c.2198A>T	XP_011527110.1:p.Gln733Leu
XM_011528809.1:c.2171A>T	XP_011527111.1:p.Gln724Leu
XM_011528810.1:c.2147A>T	XP_011527112.1:p.Gln716Leu
XM_011528811.1:c.2117A>T	XP_011527113.1:p.Gln706Leu
XM_011528812.1:c.2090A>T	XP_011527114.1:p.Gln697Leu
XM_011528813.1:c.2075A>T	XP_011527115.1:p.Gln692Leu
XM_011528814.1:c.1682A>T	XP_011527116.1:p.Gln561Leu
NM_004518.5:c.2009A>T	NP_004509.2:p.Gln670Leu
NM_172106.2:c.2039A>T	NP_742104.1:p.Gln680Leu
NM_172107.3:c.2093A>T	NP_742105.1:p.Gln698Leu
NM_172108.4:c.2000A>T	NP_742106.1:p.Gln667Leu
XM_011528810.2:c.2147A>T	XP_011527112.1:p.Gln716Leu
XM_011528811.2:c.2117A>T	XP_011527113.1:p.Gln706Leu
XM_017027841.2:c.2144A>T	XP_016883330.1:p.Gln715Leu
XM_017027842.2:c.2081A>T	XP_016883331.1:p.Gln694Leu
XM_017027843.1:c.2078A>T	XP_016883332.1:p.Gln693Leu
XM_017027844.2:c.2036A>T	XP_016883333.1:p.Gln679Leu
XM_017027845.1:c.1109A>T	XP_016883334.1:p.Gln370Leu
NM_004518.6:c.2009A>T	NP_004509.2:p.Gln670Leu
NM_172106.3:c.2039A>T	NP_742104.1:p.Gln680Leu
NM_172107.4:c.2093A>T MANE Select	NP_742105.1:p.Gln698Leu
NM_172108.5:c.2000A>T	NP_742106.1:p.Gln667Leu
NM_001382235.1:c.2147A>T	NP_001369164.1:p.Gln716Leu