Canonical Allele Identifier: CA409637967

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038323A>T (hg19) ; chr20:g.63406970A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406970A>T , CM000682.2:g.63406970A>T	GRCh38
NC_000020.10:g.62038323A>T , CM000682.1:g.62038323A>T	GRCh37
NC_000020.9:g.61508767A>T	NCBI36
NG_009004.1:g.70671T>A
NG_009004.2:g.70671T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2347T>A	ENSP00000516702.1:p.Phe783Ile
ENST00000359125.7:c.2293T>A MANE Select	ENSP00000352035.2:p.Phe765Ile
ENST00000637193.1:c.1690T>A	ENSP00000490734.1:p.Phe564Ile
ENST00000344462.8:c.2200T>A	ENSP00000339611.4:p.Phe734Ile
ENST00000357249.6:c.1861T>A	ENSP00000349789.3:p.Phe621Ile
ENST00000359125.6:c.2293T>A	ENSP00000352035.2:p.Phe765Ile
ENST00000360480.7:c.2209T>A	ENSP00000353668.3:p.Phe737Ile
ENST00000370224.5:c.2241+76T>A	ENSP00000359244.2:n.2241+76T>A
ENST00000625514.2:c.2205+76T>A	ENSP00000486040.1:n.2205+76T>A
ENST00000626839.2:c.2239T>A	ENSP00000486706.1:p.Phe747Ile
ENST00000629241.2:c.2133+76T>A	ENSP00000487142.1:n.2133+76T>A
ENST00000629676.2:c.1680-6127T>A	ENSP00000486194.1:n.1680-6127T>A
NM_004518.4:c.2209T>A	NP_004509.2:p.Phe737Ile
NM_172106.1:c.2239T>A	NP_742104.1:p.Phe747Ile
NM_172107.2:c.2293T>A	NP_742105.1:p.Phe765Ile
NM_172108.3:c.2200T>A	NP_742106.1:p.Phe734Ile
XM_006723787.1:c.2335T>A	XP_006723850.1:p.Phe779Ile
XM_011528807.1:c.2401T>A	XP_011527109.1:p.Phe801Ile
XM_011528808.1:c.2398T>A	XP_011527110.1:p.Phe800Ile
XM_011528809.1:c.2371T>A	XP_011527111.1:p.Phe791Ile
XM_011528810.1:c.2347T>A	XP_011527112.1:p.Phe783Ile
XM_011528811.1:c.2317T>A	XP_011527113.1:p.Phe773Ile
XM_011528812.1:c.2290T>A	XP_011527114.1:p.Phe764Ile
XM_011528813.1:c.2275T>A	XP_011527115.1:p.Phe759Ile
XM_011528814.1:c.1882T>A	XP_011527116.1:p.Phe628Ile
NM_004518.5:c.2209T>A	NP_004509.2:p.Phe737Ile
NM_172106.2:c.2239T>A	NP_742104.1:p.Phe747Ile
NM_172107.3:c.2293T>A	NP_742105.1:p.Phe765Ile
NM_172108.4:c.2200T>A	NP_742106.1:p.Phe734Ile
XM_011528810.2:c.2347T>A	XP_011527112.1:p.Phe783Ile
XM_011528811.2:c.2317T>A	XP_011527113.1:p.Phe773Ile
XM_017027841.2:c.2344T>A	XP_016883330.1:p.Phe782Ile
XM_017027842.2:c.2281T>A	XP_016883331.1:p.Phe761Ile
XM_017027843.1:c.2278T>A	XP_016883332.1:p.Phe760Ile
XM_017027844.2:c.2236T>A	XP_016883333.1:p.Phe746Ile
XM_017027845.1:c.1309T>A	XP_016883334.1:p.Phe437Ile
NM_004518.6:c.2209T>A	NP_004509.2:p.Phe737Ile
NM_172106.3:c.2239T>A	NP_742104.1:p.Phe747Ile
NM_172107.4:c.2293T>A MANE Select	NP_742105.1:p.Phe765Ile
NM_172108.5:c.2200T>A	NP_742106.1:p.Phe734Ile
NM_001382235.1:c.2347T>A	NP_001369164.1:p.Phe783Ile