Canonical Allele Identifier: CA409637668

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406924-T-A
• MyVariant Identifiers: chr20:g.62038277T>A (hg19) ; chr20:g.63406924T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406924T>A , CM000682.2:g.63406924T>A	GRCh38
NC_000020.10:g.62038277T>A , CM000682.1:g.62038277T>A	GRCh37
NC_000020.9:g.61508721T>A	NCBI36
NG_009004.1:g.70717A>T
NG_009004.2:g.70717A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2393A>T	ENSP00000516702.1:p.Asn798Ile
ENST00000359125.7:c.2339A>T MANE Select	ENSP00000352035.2:p.Asn780Ile
ENST00000637193.1:c.1736A>T	ENSP00000490734.1:p.Asn579Ile
ENST00000344462.8:c.2246A>T	ENSP00000339611.4:p.Asn749Ile
ENST00000357249.6:c.1907A>T	ENSP00000349789.3:p.Asn636Ile
ENST00000359125.6:c.2339A>T	ENSP00000352035.2:p.Asn780Ile
ENST00000360480.7:c.2255A>T	ENSP00000353668.3:p.Asn752Ile
ENST00000370224.5:c.2241+122A>T	ENSP00000359244.2:n.2241+122A>T
ENST00000625514.2:c.2205+122A>T	ENSP00000486040.1:n.2205+122A>T
ENST00000626839.2:c.2285A>T	ENSP00000486706.1:p.Asn762Ile
ENST00000629241.2:c.2133+122A>T	ENSP00000487142.1:n.2133+122A>T
ENST00000629676.2:c.1680-6081A>T	ENSP00000486194.1:n.1680-6081A>T
NM_004518.4:c.2255A>T	NP_004509.2:p.Asn752Ile
NM_172106.1:c.2285A>T	NP_742104.1:p.Asn762Ile
NM_172107.2:c.2339A>T	NP_742105.1:p.Asn780Ile
NM_172108.3:c.2246A>T	NP_742106.1:p.Asn749Ile
XM_006723787.1:c.2381A>T	XP_006723850.1:p.Asn794Ile
XM_011528807.1:c.2447A>T	XP_011527109.1:p.Asn816Ile
XM_011528808.1:c.2444A>T	XP_011527110.1:p.Asn815Ile
XM_011528809.1:c.2417A>T	XP_011527111.1:p.Asn806Ile
XM_011528810.1:c.2393A>T	XP_011527112.1:p.Asn798Ile
XM_011528811.1:c.2363A>T	XP_011527113.1:p.Asn788Ile
XM_011528812.1:c.2336A>T	XP_011527114.1:p.Asn779Ile
XM_011528813.1:c.2321A>T	XP_011527115.1:p.Asn774Ile
XM_011528814.1:c.1928A>T	XP_011527116.1:p.Asn643Ile
NM_004518.5:c.2255A>T	NP_004509.2:p.Asn752Ile
NM_172106.2:c.2285A>T	NP_742104.1:p.Asn762Ile
NM_172107.3:c.2339A>T	NP_742105.1:p.Asn780Ile
NM_172108.4:c.2246A>T	NP_742106.1:p.Asn749Ile
XM_011528810.2:c.2393A>T	XP_011527112.1:p.Asn798Ile
XM_011528811.2:c.2363A>T	XP_011527113.1:p.Asn788Ile
XM_017027841.2:c.2390A>T	XP_016883330.1:p.Asn797Ile
XM_017027842.2:c.2327A>T	XP_016883331.1:p.Asn776Ile
XM_017027843.1:c.2324A>T	XP_016883332.1:p.Asn775Ile
XM_017027844.2:c.2282A>T	XP_016883333.1:p.Asn761Ile
XM_017027845.1:c.1355A>T	XP_016883334.1:p.Asn452Ile
NM_004518.6:c.2255A>T	NP_004509.2:p.Asn752Ile
NM_172106.3:c.2285A>T	NP_742104.1:p.Asn762Ile
NM_172107.4:c.2339A>T MANE Select	NP_742105.1:p.Asn780Ile
NM_172108.5:c.2246A>T	NP_742106.1:p.Asn749Ile
NM_001382235.1:c.2393A>T	NP_001369164.1:p.Asn798Ile