Canonical Allele Identifier: CA409637145

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406840-G-A
• MyVariant Identifiers: chr20:g.62038193G>A (hg19) ; chr20:g.63406840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406840G>A , CM000682.2:g.63406840G>A	GRCh38
NC_000020.10:g.62038193G>A , CM000682.1:g.62038193G>A	GRCh37
NC_000020.9:g.61508637G>A	NCBI36
NG_009004.1:g.70801C>T
NG_009004.2:g.70801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2477C>T	ENSP00000516702.1:p.Ser826Phe
ENST00000359125.7:c.2423C>T MANE Select	ENSP00000352035.2:p.Ser808Phe
ENST00000637193.1:c.1820C>T	ENSP00000490734.1:p.Ser607Phe
ENST00000344462.8:c.2330C>T	ENSP00000339611.4:p.Ser777Phe
ENST00000357249.6:c.1991C>T	ENSP00000349789.3:p.Ser664Phe
ENST00000359125.6:c.2423C>T	ENSP00000352035.2:p.Ser808Phe
ENST00000360480.7:c.2339C>T	ENSP00000353668.3:p.Ser780Phe
ENST00000370224.5:c.2241+206C>T	ENSP00000359244.2:n.2241+206C>T
ENST00000625514.2:c.2205+206C>T	ENSP00000486040.1:n.2205+206C>T
ENST00000626839.2:c.2369C>T	ENSP00000486706.1:p.Ser790Phe
ENST00000629241.2:c.2133+206C>T	ENSP00000487142.1:n.2133+206C>T
ENST00000629676.2:c.1680-5997C>T	ENSP00000486194.1:n.1680-5997C>T
NM_004518.4:c.2339C>T	NP_004509.2:p.Ser780Phe
NM_172106.1:c.2369C>T	NP_742104.1:p.Ser790Phe
NM_172107.2:c.2423C>T	NP_742105.1:p.Ser808Phe
NM_172108.3:c.2330C>T	NP_742106.1:p.Ser777Phe
XM_006723787.1:c.2465C>T	XP_006723850.1:p.Ser822Phe
XM_011528807.1:c.2531C>T	XP_011527109.1:p.Ser844Phe
XM_011528808.1:c.2528C>T	XP_011527110.1:p.Ser843Phe
XM_011528809.1:c.2501C>T	XP_011527111.1:p.Ser834Phe
XM_011528810.1:c.2477C>T	XP_011527112.1:p.Ser826Phe
XM_011528811.1:c.2447C>T	XP_011527113.1:p.Ser816Phe
XM_011528812.1:c.2420C>T	XP_011527114.1:p.Ser807Phe
XM_011528813.1:c.2405C>T	XP_011527115.1:p.Ser802Phe
XM_011528814.1:c.2012C>T	XP_011527116.1:p.Ser671Phe
NM_004518.5:c.2339C>T	NP_004509.2:p.Ser780Phe
NM_172106.2:c.2369C>T	NP_742104.1:p.Ser790Phe
NM_172107.3:c.2423C>T	NP_742105.1:p.Ser808Phe
NM_172108.4:c.2330C>T	NP_742106.1:p.Ser777Phe
XM_011528810.2:c.2477C>T	XP_011527112.1:p.Ser826Phe
XM_011528811.2:c.2447C>T	XP_011527113.1:p.Ser816Phe
XM_017027841.2:c.2474C>T	XP_016883330.1:p.Ser825Phe
XM_017027842.2:c.2411C>T	XP_016883331.1:p.Ser804Phe
XM_017027843.1:c.2408C>T	XP_016883332.1:p.Ser803Phe
XM_017027844.2:c.2366C>T	XP_016883333.1:p.Ser789Phe
XM_017027845.1:c.1439C>T	XP_016883334.1:p.Ser480Phe
NM_004518.6:c.2339C>T	NP_004509.2:p.Ser780Phe
NM_172106.3:c.2369C>T	NP_742104.1:p.Ser790Phe
NM_172107.4:c.2423C>T MANE Select	NP_742105.1:p.Ser808Phe
NM_172108.5:c.2330C>T	NP_742106.1:p.Ser777Phe
NM_001382235.1:c.2477C>T	NP_001369164.1:p.Ser826Phe