Canonical Allele Identifier: CA409637240

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038211A>T (hg19) ; chr20:g.63406858A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406858A>T , CM000682.2:g.63406858A>T	GRCh38
NC_000020.10:g.62038211A>T , CM000682.1:g.62038211A>T	GRCh37
NC_000020.9:g.61508655A>T	NCBI36
NG_009004.1:g.70783T>A
NG_009004.2:g.70783T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2459T>A	ENSP00000516702.1:p.Phe820Tyr
ENST00000359125.7:c.2405T>A MANE Select	ENSP00000352035.2:p.Phe802Tyr
ENST00000637193.1:c.1802T>A	ENSP00000490734.1:p.Phe601Tyr
ENST00000344462.8:c.2312T>A	ENSP00000339611.4:p.Phe771Tyr
ENST00000357249.6:c.1973T>A	ENSP00000349789.3:p.Phe658Tyr
ENST00000359125.6:c.2405T>A	ENSP00000352035.2:p.Phe802Tyr
ENST00000360480.7:c.2321T>A	ENSP00000353668.3:p.Phe774Tyr
ENST00000370224.5:c.2241+188T>A	ENSP00000359244.2:n.2241+188T>A
ENST00000625514.2:c.2205+188T>A	ENSP00000486040.1:n.2205+188T>A
ENST00000626839.2:c.2351T>A	ENSP00000486706.1:p.Phe784Tyr
ENST00000629241.2:c.2133+188T>A	ENSP00000487142.1:n.2133+188T>A
ENST00000629676.2:c.1680-6015T>A	ENSP00000486194.1:n.1680-6015T>A
NM_004518.4:c.2321T>A	NP_004509.2:p.Phe774Tyr
NM_172106.1:c.2351T>A	NP_742104.1:p.Phe784Tyr
NM_172107.2:c.2405T>A	NP_742105.1:p.Phe802Tyr
NM_172108.3:c.2312T>A	NP_742106.1:p.Phe771Tyr
XM_006723787.1:c.2447T>A	XP_006723850.1:p.Phe816Tyr
XM_011528807.1:c.2513T>A	XP_011527109.1:p.Phe838Tyr
XM_011528808.1:c.2510T>A	XP_011527110.1:p.Phe837Tyr
XM_011528809.1:c.2483T>A	XP_011527111.1:p.Phe828Tyr
XM_011528810.1:c.2459T>A	XP_011527112.1:p.Phe820Tyr
XM_011528811.1:c.2429T>A	XP_011527113.1:p.Phe810Tyr
XM_011528812.1:c.2402T>A	XP_011527114.1:p.Phe801Tyr
XM_011528813.1:c.2387T>A	XP_011527115.1:p.Phe796Tyr
XM_011528814.1:c.1994T>A	XP_011527116.1:p.Phe665Tyr
NM_004518.5:c.2321T>A	NP_004509.2:p.Phe774Tyr
NM_172106.2:c.2351T>A	NP_742104.1:p.Phe784Tyr
NM_172107.3:c.2405T>A	NP_742105.1:p.Phe802Tyr
NM_172108.4:c.2312T>A	NP_742106.1:p.Phe771Tyr
XM_011528810.2:c.2459T>A	XP_011527112.1:p.Phe820Tyr
XM_011528811.2:c.2429T>A	XP_011527113.1:p.Phe810Tyr
XM_017027841.2:c.2456T>A	XP_016883330.1:p.Phe819Tyr
XM_017027842.2:c.2393T>A	XP_016883331.1:p.Phe798Tyr
XM_017027843.1:c.2390T>A	XP_016883332.1:p.Phe797Tyr
XM_017027844.2:c.2348T>A	XP_016883333.1:p.Phe783Tyr
XM_017027845.1:c.1421T>A	XP_016883334.1:p.Phe474Tyr
NM_004518.6:c.2321T>A	NP_004509.2:p.Phe774Tyr
NM_172106.3:c.2351T>A	NP_742104.1:p.Phe784Tyr
NM_172107.4:c.2405T>A MANE Select	NP_742105.1:p.Phe802Tyr
NM_172108.5:c.2312T>A	NP_742106.1:p.Phe771Tyr
NM_001382235.1:c.2459T>A	NP_001369164.1:p.Phe820Tyr