Canonical Allele Identifier: CA409639423

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038685T>A (hg19) ; chr20:g.63407332T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407332T>A , CM000682.2:g.63407332T>A	GRCh38
NC_000020.10:g.62038685T>A , CM000682.1:g.62038685T>A	GRCh37
NC_000020.9:g.61509129T>A	NCBI36
NG_009004.1:g.70309A>T
NG_009004.2:g.70309A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1985A>T	ENSP00000516702.1:p.Tyr662Phe
ENST00000359125.7:c.1931A>T MANE Select	ENSP00000352035.2:p.Tyr644Phe
ENST00000637193.1:c.1328A>T	ENSP00000490734.1:p.Tyr443Phe
ENST00000637338.1:n.88A>T
ENST00000344462.8:c.1838A>T	ENSP00000339611.4:p.Tyr613Phe
ENST00000357249.6:c.1499A>T	ENSP00000349789.3:p.Tyr500Phe
ENST00000359125.6:c.1931A>T	ENSP00000352035.2:p.Tyr644Phe
ENST00000360480.7:c.1847A>T	ENSP00000353668.3:p.Tyr616Phe
ENST00000370224.5:c.1955A>T	ENSP00000359244.2:p.Tyr652Phe
ENST00000625514.2:c.1919A>T	ENSP00000486040.1:p.Tyr640Phe
ENST00000626839.2:c.1877A>T	ENSP00000486706.1:p.Tyr626Phe
ENST00000629241.2:c.1847A>T	ENSP00000487142.1:p.Tyr616Phe
ENST00000629676.2:c.1679+6118A>T	ENSP00000486194.1:n.1679+6118A>T
NM_004518.4:c.1847A>T	NP_004509.2:p.Tyr616Phe
NM_172106.1:c.1877A>T	NP_742104.1:p.Tyr626Phe
NM_172107.2:c.1931A>T	NP_742105.1:p.Tyr644Phe
NM_172108.3:c.1838A>T	NP_742106.1:p.Tyr613Phe
XM_006723787.1:c.1973A>T	XP_006723850.1:p.Tyr658Phe
XM_011528807.1:c.2039A>T	XP_011527109.1:p.Tyr680Phe
XM_011528808.1:c.2036A>T	XP_011527110.1:p.Tyr679Phe
XM_011528809.1:c.2009A>T	XP_011527111.1:p.Tyr670Phe
XM_011528810.1:c.1985A>T	XP_011527112.1:p.Tyr662Phe
XM_011528811.1:c.1955A>T	XP_011527113.1:p.Tyr652Phe
XM_011528812.1:c.1928A>T	XP_011527114.1:p.Tyr643Phe
XM_011528813.1:c.1913A>T	XP_011527115.1:p.Tyr638Phe
XM_011528814.1:c.1520A>T	XP_011527116.1:p.Tyr507Phe
NM_004518.5:c.1847A>T	NP_004509.2:p.Tyr616Phe
NM_172106.2:c.1877A>T	NP_742104.1:p.Tyr626Phe
NM_172107.3:c.1931A>T	NP_742105.1:p.Tyr644Phe
NM_172108.4:c.1838A>T	NP_742106.1:p.Tyr613Phe
XM_011528810.2:c.1985A>T	XP_011527112.1:p.Tyr662Phe
XM_011528811.2:c.1955A>T	XP_011527113.1:p.Tyr652Phe
XM_017027841.2:c.1982A>T	XP_016883330.1:p.Tyr661Phe
XM_017027842.2:c.1919A>T	XP_016883331.1:p.Tyr640Phe
XM_017027843.1:c.1916A>T	XP_016883332.1:p.Tyr639Phe
XM_017027844.2:c.1874A>T	XP_016883333.1:p.Tyr625Phe
XM_017027845.1:c.947A>T	XP_016883334.1:p.Tyr316Phe
NM_004518.6:c.1847A>T	NP_004509.2:p.Tyr616Phe
NM_172106.3:c.1877A>T	NP_742104.1:p.Tyr626Phe
NM_172107.4:c.1931A>T MANE Select	NP_742105.1:p.Tyr644Phe
NM_172108.5:c.1838A>T	NP_742106.1:p.Tyr613Phe
NM_001382235.1:c.1985A>T	NP_001369164.1:p.Tyr662Phe