Canonical Allele Identifier: CA511339470

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407043-C-T
• MyVariant Identifiers: chr20:g.62038396C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407043C>T , CM000682.2:g.63407043C>T	GRCh38
NC_000020.10:g.62038396C>T , CM000682.1:g.62038396C>T	GRCh37
NC_000020.9:g.61508840C>T	NCBI36
NG_009004.1:g.70598G>A
NG_009004.2:g.70598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2274G>A	ENSP00000516702.1:p.Val758=
ENST00000359125.7:c.2220G>A MANE Select	ENSP00000352035.2:p.Val740=
ENST00000637193.1:c.1617G>A	ENSP00000490734.1:p.Val539=
ENST00000344462.8:c.2127G>A	ENSP00000339611.4:p.Val709=
ENST00000357249.6:c.1788G>A	ENSP00000349789.3:p.Val596=
ENST00000359125.6:c.2220G>A	ENSP00000352035.2:p.Val740=
ENST00000360480.7:c.2136G>A	ENSP00000353668.3:p.Val712=
ENST00000370224.5:c.2241+3G>A	ENSP00000359244.2:n.2241+3G>A
ENST00000625514.2:c.2205+3G>A	ENSP00000486040.1:n.2205+3G>A
ENST00000626839.2:c.2166G>A	ENSP00000486706.1:p.Val722=
ENST00000629241.2:c.2133+3G>A	ENSP00000487142.1:n.2133+3G>A
ENST00000629676.2:c.1680-6200G>A	ENSP00000486194.1:n.1680-6200G>A
NM_004518.4:c.2136G>A	NP_004509.2:p.Val712=
NM_172106.1:c.2166G>A	NP_742104.1:p.Val722=
NM_172107.2:c.2220G>A	NP_742105.1:p.Val740=
NM_172108.3:c.2127G>A	NP_742106.1:p.Val709=
XM_006723787.1:c.2262G>A	XP_006723850.1:p.Val754=
XM_011528807.1:c.2328G>A	XP_011527109.1:p.Val776=
XM_011528808.1:c.2325G>A	XP_011527110.1:p.Val775=
XM_011528809.1:c.2298G>A	XP_011527111.1:p.Val766=
XM_011528810.1:c.2274G>A	XP_011527112.1:p.Val758=
XM_011528811.1:c.2244G>A	XP_011527113.1:p.Val748=
XM_011528812.1:c.2217G>A	XP_011527114.1:p.Val739=
XM_011528813.1:c.2202G>A	XP_011527115.1:p.Val734=
XM_011528814.1:c.1809G>A	XP_011527116.1:p.Val603=
NM_004518.5:c.2136G>A	NP_004509.2:p.Val712=
NM_172106.2:c.2166G>A	NP_742104.1:p.Val722=
NM_172107.3:c.2220G>A	NP_742105.1:p.Val740=
NM_172108.4:c.2127G>A	NP_742106.1:p.Val709=
XM_011528810.2:c.2274G>A	XP_011527112.1:p.Val758=
XM_011528811.2:c.2244G>A	XP_011527113.1:p.Val748=
XM_017027841.2:c.2271G>A	XP_016883330.1:p.Val757=
XM_017027842.2:c.2208G>A	XP_016883331.1:p.Val736=
XM_017027843.1:c.2205G>A	XP_016883332.1:p.Val735=
XM_017027844.2:c.2163G>A	XP_016883333.1:p.Val721=
XM_017027845.1:c.1236G>A	XP_016883334.1:p.Val412=
NM_004518.6:c.2136G>A	NP_004509.2:p.Val712=
NM_172106.3:c.2166G>A	NP_742104.1:p.Val722=
NM_172107.4:c.2220G>A MANE Select	NP_742105.1:p.Val740=
NM_172108.5:c.2127G>A	NP_742106.1:p.Val709=
NM_001382235.1:c.2274G>A	NP_001369164.1:p.Val758=