Canonical Allele Identifier: CA409636455

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038032A>T (hg19) ; chr20:g.63406679A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406679A>T , CM000682.2:g.63406679A>T	GRCh38
NC_000020.10:g.62038032A>T , CM000682.1:g.62038032A>T	GRCh37
NC_000020.9:g.61508476A>T	NCBI36
NG_009004.1:g.70962T>A
NG_009004.2:g.70962T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2638T>A	ENSP00000516702.1:p.Phe880Ile
ENST00000359125.7:c.2584T>A MANE Select	ENSP00000352035.2:p.Phe862Ile
ENST00000637193.1:c.1981T>A	ENSP00000490734.1:p.Phe661Ile
ENST00000344462.8:c.2491T>A	ENSP00000339611.4:p.Phe831Ile
ENST00000357249.6:c.2152T>A	ENSP00000349789.3:p.Phe718Ile
ENST00000359125.6:c.2584T>A	ENSP00000352035.2:p.Phe862Ile
ENST00000360480.7:c.2500T>A	ENSP00000353668.3:p.Phe834Ile
ENST00000370224.5:c.2241+367T>A	ENSP00000359244.2:n.2241+367T>A
ENST00000625514.2:c.2205+367T>A	ENSP00000486040.1:n.2205+367T>A
ENST00000626839.2:c.2530T>A	ENSP00000486706.1:p.Phe844Ile
ENST00000629241.2:c.2133+367T>A	ENSP00000487142.1:n.2133+367T>A
ENST00000629676.2:c.1680-5836T>A	ENSP00000486194.1:n.1680-5836T>A
NM_004518.4:c.2500T>A	NP_004509.2:p.Phe834Ile
NM_172106.1:c.2530T>A	NP_742104.1:p.Phe844Ile
NM_172107.2:c.2584T>A	NP_742105.1:p.Phe862Ile
NM_172108.3:c.2491T>A	NP_742106.1:p.Phe831Ile
XM_006723787.1:c.2626T>A	XP_006723850.1:p.Phe876Ile
XM_011528807.1:c.2692T>A	XP_011527109.1:p.Phe898Ile
XM_011528808.1:c.2689T>A	XP_011527110.1:p.Phe897Ile
XM_011528809.1:c.2662T>A	XP_011527111.1:p.Phe888Ile
XM_011528810.1:c.2638T>A	XP_011527112.1:p.Phe880Ile
XM_011528811.1:c.2608T>A	XP_011527113.1:p.Phe870Ile
XM_011528812.1:c.2581T>A	XP_011527114.1:p.Phe861Ile
XM_011528813.1:c.2566T>A	XP_011527115.1:p.Phe856Ile
XM_011528814.1:c.2173T>A	XP_011527116.1:p.Phe725Ile
NM_004518.5:c.2500T>A	NP_004509.2:p.Phe834Ile
NM_172106.2:c.2530T>A	NP_742104.1:p.Phe844Ile
NM_172107.3:c.2584T>A	NP_742105.1:p.Phe862Ile
NM_172108.4:c.2491T>A	NP_742106.1:p.Phe831Ile
XM_011528810.2:c.2638T>A	XP_011527112.1:p.Phe880Ile
XM_011528811.2:c.2608T>A	XP_011527113.1:p.Phe870Ile
XM_017027841.2:c.2635T>A	XP_016883330.1:p.Phe879Ile
XM_017027842.2:c.2572T>A	XP_016883331.1:p.Phe858Ile
XM_017027843.1:c.2569T>A	XP_016883332.1:p.Phe857Ile
XM_017027844.2:c.2527T>A	XP_016883333.1:p.Phe843Ile
XM_017027845.1:c.1600T>A	XP_016883334.1:p.Phe534Ile
NM_004518.6:c.2500T>A	NP_004509.2:p.Phe834Ile
NM_172106.3:c.2530T>A	NP_742104.1:p.Phe844Ile
NM_172107.4:c.2584T>A MANE Select	NP_742105.1:p.Phe862Ile
NM_172108.5:c.2491T>A	NP_742106.1:p.Phe831Ile
NM_001382235.1:c.2638T>A	NP_001369164.1:p.Phe880Ile