Canonical Allele Identifier: CA409638087

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406988-T-G
• MyVariant Identifiers: chr20:g.62038341T>G (hg19) ; chr20:g.63406988T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406988T>G , CM000682.2:g.63406988T>G	GRCh38
NC_000020.10:g.62038341T>G , CM000682.1:g.62038341T>G	GRCh37
NC_000020.9:g.61508785T>G	NCBI36
NG_009004.1:g.70653A>C
NG_009004.2:g.70653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2329A>C	ENSP00000516702.1:p.Asn777His
ENST00000359125.7:c.2275A>C MANE Select	ENSP00000352035.2:p.Asn759His
ENST00000637193.1:c.1672A>C	ENSP00000490734.1:p.Asn558His
ENST00000344462.8:c.2182A>C	ENSP00000339611.4:p.Asn728His
ENST00000357249.6:c.1843A>C	ENSP00000349789.3:p.Asn615His
ENST00000359125.6:c.2275A>C	ENSP00000352035.2:p.Asn759His
ENST00000360480.7:c.2191A>C	ENSP00000353668.3:p.Asn731His
ENST00000370224.5:c.2241+58A>C	ENSP00000359244.2:n.2241+58A>C
ENST00000625514.2:c.2205+58A>C	ENSP00000486040.1:n.2205+58A>C
ENST00000626839.2:c.2221A>C	ENSP00000486706.1:p.Asn741His
ENST00000629241.2:c.2133+58A>C	ENSP00000487142.1:n.2133+58A>C
ENST00000629676.2:c.1680-6145A>C	ENSP00000486194.1:n.1680-6145A>C
NM_004518.4:c.2191A>C	NP_004509.2:p.Asn731His
NM_172106.1:c.2221A>C	NP_742104.1:p.Asn741His
NM_172107.2:c.2275A>C	NP_742105.1:p.Asn759His
NM_172108.3:c.2182A>C	NP_742106.1:p.Asn728His
XM_006723787.1:c.2317A>C	XP_006723850.1:p.Asn773His
XM_011528807.1:c.2383A>C	XP_011527109.1:p.Asn795His
XM_011528808.1:c.2380A>C	XP_011527110.1:p.Asn794His
XM_011528809.1:c.2353A>C	XP_011527111.1:p.Asn785His
XM_011528810.1:c.2329A>C	XP_011527112.1:p.Asn777His
XM_011528811.1:c.2299A>C	XP_011527113.1:p.Asn767His
XM_011528812.1:c.2272A>C	XP_011527114.1:p.Asn758His
XM_011528813.1:c.2257A>C	XP_011527115.1:p.Asn753His
XM_011528814.1:c.1864A>C	XP_011527116.1:p.Asn622His
NM_004518.5:c.2191A>C	NP_004509.2:p.Asn731His
NM_172106.2:c.2221A>C	NP_742104.1:p.Asn741His
NM_172107.3:c.2275A>C	NP_742105.1:p.Asn759His
NM_172108.4:c.2182A>C	NP_742106.1:p.Asn728His
XM_011528810.2:c.2329A>C	XP_011527112.1:p.Asn777His
XM_011528811.2:c.2299A>C	XP_011527113.1:p.Asn767His
XM_017027841.2:c.2326A>C	XP_016883330.1:p.Asn776His
XM_017027842.2:c.2263A>C	XP_016883331.1:p.Asn755His
XM_017027843.1:c.2260A>C	XP_016883332.1:p.Asn754His
XM_017027844.2:c.2218A>C	XP_016883333.1:p.Asn740His
XM_017027845.1:c.1291A>C	XP_016883334.1:p.Asn431His
NM_004518.6:c.2191A>C	NP_004509.2:p.Asn731His
NM_172106.3:c.2221A>C	NP_742104.1:p.Asn741His
NM_172107.4:c.2275A>C MANE Select	NP_742105.1:p.Asn759His
NM_172108.5:c.2182A>C	NP_742106.1:p.Asn728His
NM_001382235.1:c.2329A>C	NP_001369164.1:p.Asn777His