Canonical Allele Identifier: CA409639290

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038643T>A (hg19) ; chr20:g.63407290T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407290T>A , CM000682.2:g.63407290T>A	GRCh38
NC_000020.10:g.62038643T>A , CM000682.1:g.62038643T>A	GRCh37
NC_000020.9:g.61509087T>A	NCBI36
NG_009004.1:g.70351A>T
NG_009004.2:g.70351A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2027A>T	ENSP00000516702.1:p.Tyr676Phe
ENST00000359125.7:c.1973A>T MANE Select	ENSP00000352035.2:p.Tyr658Phe
ENST00000637193.1:c.1370A>T	ENSP00000490734.1:p.Tyr457Phe
ENST00000344462.8:c.1880A>T	ENSP00000339611.4:p.Tyr627Phe
ENST00000357249.6:c.1541A>T	ENSP00000349789.3:p.Tyr514Phe
ENST00000359125.6:c.1973A>T	ENSP00000352035.2:p.Tyr658Phe
ENST00000360480.7:c.1889A>T	ENSP00000353668.3:p.Tyr630Phe
ENST00000370224.5:c.1997A>T	ENSP00000359244.2:p.Tyr666Phe
ENST00000625514.2:c.1961A>T	ENSP00000486040.1:p.Tyr654Phe
ENST00000626839.2:c.1919A>T	ENSP00000486706.1:p.Tyr640Phe
ENST00000629241.2:c.1889A>T	ENSP00000487142.1:p.Tyr630Phe
ENST00000629676.2:c.1679+6160A>T	ENSP00000486194.1:n.1679+6160A>T
NM_004518.4:c.1889A>T	NP_004509.2:p.Tyr630Phe
NM_172106.1:c.1919A>T	NP_742104.1:p.Tyr640Phe
NM_172107.2:c.1973A>T	NP_742105.1:p.Tyr658Phe
NM_172108.3:c.1880A>T	NP_742106.1:p.Tyr627Phe
XM_006723787.1:c.2015A>T	XP_006723850.1:p.Tyr672Phe
XM_011528807.1:c.2081A>T	XP_011527109.1:p.Tyr694Phe
XM_011528808.1:c.2078A>T	XP_011527110.1:p.Tyr693Phe
XM_011528809.1:c.2051A>T	XP_011527111.1:p.Tyr684Phe
XM_011528810.1:c.2027A>T	XP_011527112.1:p.Tyr676Phe
XM_011528811.1:c.1997A>T	XP_011527113.1:p.Tyr666Phe
XM_011528812.1:c.1970A>T	XP_011527114.1:p.Tyr657Phe
XM_011528813.1:c.1955A>T	XP_011527115.1:p.Tyr652Phe
XM_011528814.1:c.1562A>T	XP_011527116.1:p.Tyr521Phe
NM_004518.5:c.1889A>T	NP_004509.2:p.Tyr630Phe
NM_172106.2:c.1919A>T	NP_742104.1:p.Tyr640Phe
NM_172107.3:c.1973A>T	NP_742105.1:p.Tyr658Phe
NM_172108.4:c.1880A>T	NP_742106.1:p.Tyr627Phe
XM_011528810.2:c.2027A>T	XP_011527112.1:p.Tyr676Phe
XM_011528811.2:c.1997A>T	XP_011527113.1:p.Tyr666Phe
XM_017027841.2:c.2024A>T	XP_016883330.1:p.Tyr675Phe
XM_017027842.2:c.1961A>T	XP_016883331.1:p.Tyr654Phe
XM_017027843.1:c.1958A>T	XP_016883332.1:p.Tyr653Phe
XM_017027844.2:c.1916A>T	XP_016883333.1:p.Tyr639Phe
XM_017027845.1:c.989A>T	XP_016883334.1:p.Tyr330Phe
NM_004518.6:c.1889A>T	NP_004509.2:p.Tyr630Phe
NM_172106.3:c.1919A>T	NP_742104.1:p.Tyr640Phe
NM_172107.4:c.1973A>T MANE Select	NP_742105.1:p.Tyr658Phe
NM_172108.5:c.1880A>T	NP_742106.1:p.Tyr627Phe
NM_001382235.1:c.2027A>T	NP_001369164.1:p.Tyr676Phe