Canonical Allele Identifier: CA409638976

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407156-C-T
• MyVariant Identifiers: chr20:g.62038509C>T (hg19) ; chr20:g.63407156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407156C>T , CM000682.2:g.63407156C>T	GRCh38
NC_000020.10:g.62038509C>T , CM000682.1:g.62038509C>T	GRCh37
NC_000020.9:g.61508953C>T	NCBI36
NG_009004.1:g.70485G>A
NG_009004.2:g.70485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2161G>A	ENSP00000516702.1:p.Ala721Thr
ENST00000359125.7:c.2107G>A MANE Select	ENSP00000352035.2:p.Ala703Thr
ENST00000637193.1:c.1504G>A	ENSP00000490734.1:p.Ala502Thr
ENST00000344462.8:c.2014G>A	ENSP00000339611.4:p.Ala672Thr
ENST00000357249.6:c.1675G>A	ENSP00000349789.3:p.Ala559Thr
ENST00000359125.6:c.2107G>A	ENSP00000352035.2:p.Ala703Thr
ENST00000360480.7:c.2023G>A	ENSP00000353668.3:p.Ala675Thr
ENST00000370224.5:c.2131G>A	ENSP00000359244.2:p.Ala711Thr
ENST00000625514.2:c.2095G>A	ENSP00000486040.1:p.Ala699Thr
ENST00000626839.2:c.2053G>A	ENSP00000486706.1:p.Ala685Thr
ENST00000629241.2:c.2023G>A	ENSP00000487142.1:p.Ala675Thr
ENST00000629676.2:c.1679+6294G>A	ENSP00000486194.1:n.1679+6294G>A
NM_004518.4:c.2023G>A	NP_004509.2:p.Ala675Thr
NM_172106.1:c.2053G>A	NP_742104.1:p.Ala685Thr
NM_172107.2:c.2107G>A	NP_742105.1:p.Ala703Thr
NM_172108.3:c.2014G>A	NP_742106.1:p.Ala672Thr
XM_006723787.1:c.2149G>A	XP_006723850.1:p.Ala717Thr
XM_011528807.1:c.2215G>A	XP_011527109.1:p.Ala739Thr
XM_011528808.1:c.2212G>A	XP_011527110.1:p.Ala738Thr
XM_011528809.1:c.2185G>A	XP_011527111.1:p.Ala729Thr
XM_011528810.1:c.2161G>A	XP_011527112.1:p.Ala721Thr
XM_011528811.1:c.2131G>A	XP_011527113.1:p.Ala711Thr
XM_011528812.1:c.2104G>A	XP_011527114.1:p.Ala702Thr
XM_011528813.1:c.2089G>A	XP_011527115.1:p.Ala697Thr
XM_011528814.1:c.1696G>A	XP_011527116.1:p.Ala566Thr
NM_004518.5:c.2023G>A	NP_004509.2:p.Ala675Thr
NM_172106.2:c.2053G>A	NP_742104.1:p.Ala685Thr
NM_172107.3:c.2107G>A	NP_742105.1:p.Ala703Thr
NM_172108.4:c.2014G>A	NP_742106.1:p.Ala672Thr
XM_011528810.2:c.2161G>A	XP_011527112.1:p.Ala721Thr
XM_011528811.2:c.2131G>A	XP_011527113.1:p.Ala711Thr
XM_017027841.2:c.2158G>A	XP_016883330.1:p.Ala720Thr
XM_017027842.2:c.2095G>A	XP_016883331.1:p.Ala699Thr
XM_017027843.1:c.2092G>A	XP_016883332.1:p.Ala698Thr
XM_017027844.2:c.2050G>A	XP_016883333.1:p.Ala684Thr
XM_017027845.1:c.1123G>A	XP_016883334.1:p.Ala375Thr
NM_004518.6:c.2023G>A	NP_004509.2:p.Ala675Thr
NM_172106.3:c.2053G>A	NP_742104.1:p.Ala685Thr
NM_172107.4:c.2107G>A MANE Select	NP_742105.1:p.Ala703Thr
NM_172108.5:c.2014G>A	NP_742106.1:p.Ala672Thr
NM_001382235.1:c.2161G>A	NP_001369164.1:p.Ala721Thr