Canonical Allele Identifier: CA409636969

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406801-T-A
• MyVariant Identifiers: chr20:g.62038154T>A (hg19) ; chr20:g.63406801T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406801T>A , CM000682.2:g.63406801T>A	GRCh38
NC_000020.10:g.62038154T>A , CM000682.1:g.62038154T>A	GRCh37
NC_000020.9:g.61508598T>A	NCBI36
NG_009004.1:g.70840A>T
NG_009004.2:g.70840A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2516A>T	ENSP00000516702.1:p.Tyr839Phe
ENST00000359125.7:c.2462A>T MANE Select	ENSP00000352035.2:p.Tyr821Phe
ENST00000637193.1:c.1859A>T	ENSP00000490734.1:p.Tyr620Phe
ENST00000344462.8:c.2369A>T	ENSP00000339611.4:p.Tyr790Phe
ENST00000357249.6:c.2030A>T	ENSP00000349789.3:p.Tyr677Phe
ENST00000359125.6:c.2462A>T	ENSP00000352035.2:p.Tyr821Phe
ENST00000360480.7:c.2378A>T	ENSP00000353668.3:p.Tyr793Phe
ENST00000370224.5:c.2241+245A>T	ENSP00000359244.2:n.2241+245A>T
ENST00000625514.2:c.2205+245A>T	ENSP00000486040.1:n.2205+245A>T
ENST00000626839.2:c.2408A>T	ENSP00000486706.1:p.Tyr803Phe
ENST00000629241.2:c.2133+245A>T	ENSP00000487142.1:n.2133+245A>T
ENST00000629676.2:c.1680-5958A>T	ENSP00000486194.1:n.1680-5958A>T
NM_004518.4:c.2378A>T	NP_004509.2:p.Tyr793Phe
NM_172106.1:c.2408A>T	NP_742104.1:p.Tyr803Phe
NM_172107.2:c.2462A>T	NP_742105.1:p.Tyr821Phe
NM_172108.3:c.2369A>T	NP_742106.1:p.Tyr790Phe
XM_006723787.1:c.2504A>T	XP_006723850.1:p.Tyr835Phe
XM_011528807.1:c.2570A>T	XP_011527109.1:p.Tyr857Phe
XM_011528808.1:c.2567A>T	XP_011527110.1:p.Tyr856Phe
XM_011528809.1:c.2540A>T	XP_011527111.1:p.Tyr847Phe
XM_011528810.1:c.2516A>T	XP_011527112.1:p.Tyr839Phe
XM_011528811.1:c.2486A>T	XP_011527113.1:p.Tyr829Phe
XM_011528812.1:c.2459A>T	XP_011527114.1:p.Tyr820Phe
XM_011528813.1:c.2444A>T	XP_011527115.1:p.Tyr815Phe
XM_011528814.1:c.2051A>T	XP_011527116.1:p.Tyr684Phe
NM_004518.5:c.2378A>T	NP_004509.2:p.Tyr793Phe
NM_172106.2:c.2408A>T	NP_742104.1:p.Tyr803Phe
NM_172107.3:c.2462A>T	NP_742105.1:p.Tyr821Phe
NM_172108.4:c.2369A>T	NP_742106.1:p.Tyr790Phe
XM_011528810.2:c.2516A>T	XP_011527112.1:p.Tyr839Phe
XM_011528811.2:c.2486A>T	XP_011527113.1:p.Tyr829Phe
XM_017027841.2:c.2513A>T	XP_016883330.1:p.Tyr838Phe
XM_017027842.2:c.2450A>T	XP_016883331.1:p.Tyr817Phe
XM_017027843.1:c.2447A>T	XP_016883332.1:p.Tyr816Phe
XM_017027844.2:c.2405A>T	XP_016883333.1:p.Tyr802Phe
XM_017027845.1:c.1478A>T	XP_016883334.1:p.Tyr493Phe
NM_004518.6:c.2378A>T	NP_004509.2:p.Tyr793Phe
NM_172106.3:c.2408A>T	NP_742104.1:p.Tyr803Phe
NM_172107.4:c.2462A>T MANE Select	NP_742105.1:p.Tyr821Phe
NM_172108.5:c.2369A>T	NP_742106.1:p.Tyr790Phe
NM_001382235.1:c.2516A>T	NP_001369164.1:p.Tyr839Phe