Canonical Allele Identifier: CA409639030

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038533A>T (hg19) ; chr20:g.63407180A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407180A>T , CM000682.2:g.63407180A>T	GRCh38
NC_000020.10:g.62038533A>T , CM000682.1:g.62038533A>T	GRCh37
NC_000020.9:g.61508977A>T	NCBI36
NG_009004.1:g.70461T>A
NG_009004.2:g.70461T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2137T>A	ENSP00000516702.1:p.Ser713Thr
ENST00000359125.7:c.2083T>A MANE Select	ENSP00000352035.2:p.Ser695Thr
ENST00000637193.1:c.1480T>A	ENSP00000490734.1:p.Ser494Thr
ENST00000344462.8:c.1990T>A	ENSP00000339611.4:p.Ser664Thr
ENST00000357249.6:c.1651T>A	ENSP00000349789.3:p.Ser551Thr
ENST00000359125.6:c.2083T>A	ENSP00000352035.2:p.Ser695Thr
ENST00000360480.7:c.1999T>A	ENSP00000353668.3:p.Ser667Thr
ENST00000370224.5:c.2107T>A	ENSP00000359244.2:p.Ser703Thr
ENST00000625514.2:c.2071T>A	ENSP00000486040.1:p.Ser691Thr
ENST00000626839.2:c.2029T>A	ENSP00000486706.1:p.Ser677Thr
ENST00000629241.2:c.1999T>A	ENSP00000487142.1:p.Ser667Thr
ENST00000629676.2:c.1679+6270T>A	ENSP00000486194.1:n.1679+6270T>A
NM_004518.4:c.1999T>A	NP_004509.2:p.Ser667Thr
NM_172106.1:c.2029T>A	NP_742104.1:p.Ser677Thr
NM_172107.2:c.2083T>A	NP_742105.1:p.Ser695Thr
NM_172108.3:c.1990T>A	NP_742106.1:p.Ser664Thr
XM_006723787.1:c.2125T>A	XP_006723850.1:p.Ser709Thr
XM_011528807.1:c.2191T>A	XP_011527109.1:p.Ser731Thr
XM_011528808.1:c.2188T>A	XP_011527110.1:p.Ser730Thr
XM_011528809.1:c.2161T>A	XP_011527111.1:p.Ser721Thr
XM_011528810.1:c.2137T>A	XP_011527112.1:p.Ser713Thr
XM_011528811.1:c.2107T>A	XP_011527113.1:p.Ser703Thr
XM_011528812.1:c.2080T>A	XP_011527114.1:p.Ser694Thr
XM_011528813.1:c.2065T>A	XP_011527115.1:p.Ser689Thr
XM_011528814.1:c.1672T>A	XP_011527116.1:p.Ser558Thr
NM_004518.5:c.1999T>A	NP_004509.2:p.Ser667Thr
NM_172106.2:c.2029T>A	NP_742104.1:p.Ser677Thr
NM_172107.3:c.2083T>A	NP_742105.1:p.Ser695Thr
NM_172108.4:c.1990T>A	NP_742106.1:p.Ser664Thr
XM_011528810.2:c.2137T>A	XP_011527112.1:p.Ser713Thr
XM_011528811.2:c.2107T>A	XP_011527113.1:p.Ser703Thr
XM_017027841.2:c.2134T>A	XP_016883330.1:p.Ser712Thr
XM_017027842.2:c.2071T>A	XP_016883331.1:p.Ser691Thr
XM_017027843.1:c.2068T>A	XP_016883332.1:p.Ser690Thr
XM_017027844.2:c.2026T>A	XP_016883333.1:p.Ser676Thr
XM_017027845.1:c.1099T>A	XP_016883334.1:p.Ser367Thr
NM_004518.6:c.1999T>A	NP_004509.2:p.Ser667Thr
NM_172106.3:c.2029T>A	NP_742104.1:p.Ser677Thr
NM_172107.4:c.2083T>A MANE Select	NP_742105.1:p.Ser695Thr
NM_172108.5:c.1990T>A	NP_742106.1:p.Ser664Thr
NM_001382235.1:c.2137T>A	NP_001369164.1:p.Ser713Thr