Canonical Allele Identifier: CA409637300

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038223A>T (hg19) ; chr20:g.63406870A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406870A>T , CM000682.2:g.63406870A>T	GRCh38
NC_000020.10:g.62038223A>T , CM000682.1:g.62038223A>T	GRCh37
NC_000020.9:g.61508667A>T	NCBI36
NG_009004.1:g.70771T>A
NG_009004.2:g.70771T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2447T>A	ENSP00000516702.1:p.Leu816Gln
ENST00000359125.7:c.2393T>A MANE Select	ENSP00000352035.2:p.Leu798Gln
ENST00000637193.1:c.1790T>A	ENSP00000490734.1:p.Leu597Gln
ENST00000344462.8:c.2300T>A	ENSP00000339611.4:p.Leu767Gln
ENST00000357249.6:c.1961T>A	ENSP00000349789.3:p.Leu654Gln
ENST00000359125.6:c.2393T>A	ENSP00000352035.2:p.Leu798Gln
ENST00000360480.7:c.2309T>A	ENSP00000353668.3:p.Leu770Gln
ENST00000370224.5:c.2241+176T>A	ENSP00000359244.2:n.2241+176T>A
ENST00000625514.2:c.2205+176T>A	ENSP00000486040.1:n.2205+176T>A
ENST00000626839.2:c.2339T>A	ENSP00000486706.1:p.Leu780Gln
ENST00000629241.2:c.2133+176T>A	ENSP00000487142.1:n.2133+176T>A
ENST00000629676.2:c.1680-6027T>A	ENSP00000486194.1:n.1680-6027T>A
NM_004518.4:c.2309T>A	NP_004509.2:p.Leu770Gln
NM_172106.1:c.2339T>A	NP_742104.1:p.Leu780Gln
NM_172107.2:c.2393T>A	NP_742105.1:p.Leu798Gln
NM_172108.3:c.2300T>A	NP_742106.1:p.Leu767Gln
XM_006723787.1:c.2435T>A	XP_006723850.1:p.Leu812Gln
XM_011528807.1:c.2501T>A	XP_011527109.1:p.Leu834Gln
XM_011528808.1:c.2498T>A	XP_011527110.1:p.Leu833Gln
XM_011528809.1:c.2471T>A	XP_011527111.1:p.Leu824Gln
XM_011528810.1:c.2447T>A	XP_011527112.1:p.Leu816Gln
XM_011528811.1:c.2417T>A	XP_011527113.1:p.Leu806Gln
XM_011528812.1:c.2390T>A	XP_011527114.1:p.Leu797Gln
XM_011528813.1:c.2375T>A	XP_011527115.1:p.Leu792Gln
XM_011528814.1:c.1982T>A	XP_011527116.1:p.Leu661Gln
NM_004518.5:c.2309T>A	NP_004509.2:p.Leu770Gln
NM_172106.2:c.2339T>A	NP_742104.1:p.Leu780Gln
NM_172107.3:c.2393T>A	NP_742105.1:p.Leu798Gln
NM_172108.4:c.2300T>A	NP_742106.1:p.Leu767Gln
XM_011528810.2:c.2447T>A	XP_011527112.1:p.Leu816Gln
XM_011528811.2:c.2417T>A	XP_011527113.1:p.Leu806Gln
XM_017027841.2:c.2444T>A	XP_016883330.1:p.Leu815Gln
XM_017027842.2:c.2381T>A	XP_016883331.1:p.Leu794Gln
XM_017027843.1:c.2378T>A	XP_016883332.1:p.Leu793Gln
XM_017027844.2:c.2336T>A	XP_016883333.1:p.Leu779Gln
XM_017027845.1:c.1409T>A	XP_016883334.1:p.Leu470Gln
NM_004518.6:c.2309T>A	NP_004509.2:p.Leu770Gln
NM_172106.3:c.2339T>A	NP_742104.1:p.Leu780Gln
NM_172107.4:c.2393T>A MANE Select	NP_742105.1:p.Leu798Gln
NM_172108.5:c.2300T>A	NP_742106.1:p.Leu767Gln
NM_001382235.1:c.2447T>A	NP_001369164.1:p.Leu816Gln