Canonical Allele Identifier: CA409639023

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407177-T-C
• MyVariant Identifiers: chr20:g.62038530T>C (hg19) ; chr20:g.63407177T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407177T>C , CM000682.2:g.63407177T>C	GRCh38
NC_000020.10:g.62038530T>C , CM000682.1:g.62038530T>C	GRCh37
NC_000020.9:g.61508974T>C	NCBI36
NG_009004.1:g.70464A>G
NG_009004.2:g.70464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2140A>G	ENSP00000516702.1:p.Thr714Ala
ENST00000359125.7:c.2086A>G MANE Select	ENSP00000352035.2:p.Thr696Ala
ENST00000637193.1:c.1483A>G	ENSP00000490734.1:p.Thr495Ala
ENST00000344462.8:c.1993A>G	ENSP00000339611.4:p.Thr665Ala
ENST00000357249.6:c.1654A>G	ENSP00000349789.3:p.Thr552Ala
ENST00000359125.6:c.2086A>G	ENSP00000352035.2:p.Thr696Ala
ENST00000360480.7:c.2002A>G	ENSP00000353668.3:p.Thr668Ala
ENST00000370224.5:c.2110A>G	ENSP00000359244.2:p.Thr704Ala
ENST00000625514.2:c.2074A>G	ENSP00000486040.1:p.Thr692Ala
ENST00000626839.2:c.2032A>G	ENSP00000486706.1:p.Thr678Ala
ENST00000629241.2:c.2002A>G	ENSP00000487142.1:p.Thr668Ala
ENST00000629676.2:c.1679+6273A>G	ENSP00000486194.1:n.1679+6273A>G
NM_004518.4:c.2002A>G	NP_004509.2:p.Thr668Ala
NM_172106.1:c.2032A>G	NP_742104.1:p.Thr678Ala
NM_172107.2:c.2086A>G	NP_742105.1:p.Thr696Ala
NM_172108.3:c.1993A>G	NP_742106.1:p.Thr665Ala
XM_006723787.1:c.2128A>G	XP_006723850.1:p.Thr710Ala
XM_011528807.1:c.2194A>G	XP_011527109.1:p.Thr732Ala
XM_011528808.1:c.2191A>G	XP_011527110.1:p.Thr731Ala
XM_011528809.1:c.2164A>G	XP_011527111.1:p.Thr722Ala
XM_011528810.1:c.2140A>G	XP_011527112.1:p.Thr714Ala
XM_011528811.1:c.2110A>G	XP_011527113.1:p.Thr704Ala
XM_011528812.1:c.2083A>G	XP_011527114.1:p.Thr695Ala
XM_011528813.1:c.2068A>G	XP_011527115.1:p.Thr690Ala
XM_011528814.1:c.1675A>G	XP_011527116.1:p.Thr559Ala
NM_004518.5:c.2002A>G	NP_004509.2:p.Thr668Ala
NM_172106.2:c.2032A>G	NP_742104.1:p.Thr678Ala
NM_172107.3:c.2086A>G	NP_742105.1:p.Thr696Ala
NM_172108.4:c.1993A>G	NP_742106.1:p.Thr665Ala
XM_011528810.2:c.2140A>G	XP_011527112.1:p.Thr714Ala
XM_011528811.2:c.2110A>G	XP_011527113.1:p.Thr704Ala
XM_017027841.2:c.2137A>G	XP_016883330.1:p.Thr713Ala
XM_017027842.2:c.2074A>G	XP_016883331.1:p.Thr692Ala
XM_017027843.1:c.2071A>G	XP_016883332.1:p.Thr691Ala
XM_017027844.2:c.2029A>G	XP_016883333.1:p.Thr677Ala
XM_017027845.1:c.1102A>G	XP_016883334.1:p.Thr368Ala
NM_004518.6:c.2002A>G	NP_004509.2:p.Thr668Ala
NM_172106.3:c.2032A>G	NP_742104.1:p.Thr678Ala
NM_172107.4:c.2086A>G MANE Select	NP_742105.1:p.Thr696Ala
NM_172108.5:c.1993A>G	NP_742106.1:p.Thr665Ala
NM_001382235.1:c.2140A>G	NP_001369164.1:p.Thr714Ala