Canonical Allele Identifier: CA409636828

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038119A>T (hg19) ; chr20:g.63406766A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406766A>T , CM000682.2:g.63406766A>T	GRCh38
NC_000020.10:g.62038119A>T , CM000682.1:g.62038119A>T	GRCh37
NC_000020.9:g.61508563A>T	NCBI36
NG_009004.1:g.70875T>A
NG_009004.2:g.70875T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2551T>A	ENSP00000516702.1:p.Tyr851Asn
ENST00000359125.7:c.2497T>A MANE Select	ENSP00000352035.2:p.Tyr833Asn
ENST00000637193.1:c.1894T>A	ENSP00000490734.1:p.Tyr632Asn
ENST00000344462.8:c.2404T>A	ENSP00000339611.4:p.Tyr802Asn
ENST00000357249.6:c.2065T>A	ENSP00000349789.3:p.Tyr689Asn
ENST00000359125.6:c.2497T>A	ENSP00000352035.2:p.Tyr833Asn
ENST00000360480.7:c.2413T>A	ENSP00000353668.3:p.Tyr805Asn
ENST00000370224.5:c.2241+280T>A	ENSP00000359244.2:n.2241+280T>A
ENST00000625514.2:c.2205+280T>A	ENSP00000486040.1:n.2205+280T>A
ENST00000626839.2:c.2443T>A	ENSP00000486706.1:p.Tyr815Asn
ENST00000629241.2:c.2133+280T>A	ENSP00000487142.1:n.2133+280T>A
ENST00000629676.2:c.1680-5923T>A	ENSP00000486194.1:n.1680-5923T>A
NM_004518.4:c.2413T>A	NP_004509.2:p.Tyr805Asn
NM_172106.1:c.2443T>A	NP_742104.1:p.Tyr815Asn
NM_172107.2:c.2497T>A	NP_742105.1:p.Tyr833Asn
NM_172108.3:c.2404T>A	NP_742106.1:p.Tyr802Asn
XM_006723787.1:c.2539T>A	XP_006723850.1:p.Tyr847Asn
XM_011528807.1:c.2605T>A	XP_011527109.1:p.Tyr869Asn
XM_011528808.1:c.2602T>A	XP_011527110.1:p.Tyr868Asn
XM_011528809.1:c.2575T>A	XP_011527111.1:p.Tyr859Asn
XM_011528810.1:c.2551T>A	XP_011527112.1:p.Tyr851Asn
XM_011528811.1:c.2521T>A	XP_011527113.1:p.Tyr841Asn
XM_011528812.1:c.2494T>A	XP_011527114.1:p.Tyr832Asn
XM_011528813.1:c.2479T>A	XP_011527115.1:p.Tyr827Asn
XM_011528814.1:c.2086T>A	XP_011527116.1:p.Tyr696Asn
NM_004518.5:c.2413T>A	NP_004509.2:p.Tyr805Asn
NM_172106.2:c.2443T>A	NP_742104.1:p.Tyr815Asn
NM_172107.3:c.2497T>A	NP_742105.1:p.Tyr833Asn
NM_172108.4:c.2404T>A	NP_742106.1:p.Tyr802Asn
XM_011528810.2:c.2551T>A	XP_011527112.1:p.Tyr851Asn
XM_011528811.2:c.2521T>A	XP_011527113.1:p.Tyr841Asn
XM_017027841.2:c.2548T>A	XP_016883330.1:p.Tyr850Asn
XM_017027842.2:c.2485T>A	XP_016883331.1:p.Tyr829Asn
XM_017027843.1:c.2482T>A	XP_016883332.1:p.Tyr828Asn
XM_017027844.2:c.2440T>A	XP_016883333.1:p.Tyr814Asn
XM_017027845.1:c.1513T>A	XP_016883334.1:p.Tyr505Asn
NM_004518.6:c.2413T>A	NP_004509.2:p.Tyr805Asn
NM_172106.3:c.2443T>A	NP_742104.1:p.Tyr815Asn
NM_172107.4:c.2497T>A MANE Select	NP_742105.1:p.Tyr833Asn
NM_172108.5:c.2404T>A	NP_742106.1:p.Tyr802Asn
NM_001382235.1:c.2551T>A	NP_001369164.1:p.Tyr851Asn