Canonical Allele Identifier: CA315492

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 205920
• ClinVar RCV Id: RCV000187922
• dbSNP Id: rs118192235
• MyVariant Identifiers: chr20:g.62044824C>A (hg19) ; chr20:g.63413471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413471C>A , CM000682.2:g.63413471C>A	GRCh38
NC_000020.10:g.62044824C>A , CM000682.1:g.62044824C>A	GRCh37
NC_000020.9:g.61515268C>A	NCBI36
NG_009004.1:g.64170G>T
NG_009004.2:g.64170G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1688G>T	ENSP00000516702.1:p.Arg563Leu
ENST00000359125.7:c.1742G>T MANE Select	ENSP00000352035.2:p.Arg581Leu
ENST00000637193.1:c.1139G>T	ENSP00000490734.1:p.Arg380Leu
ENST00000344462.8:c.1649G>T	ENSP00000339611.4:p.Arg550Leu
ENST00000357249.6:c.1310G>T	ENSP00000349789.3:p.Arg437Leu
ENST00000359125.6:c.1742G>T	ENSP00000352035.2:p.Arg581Leu
ENST00000360480.7:c.1658G>T	ENSP00000353668.3:p.Arg553Leu
ENST00000370224.5:c.1658G>T	ENSP00000359244.2:p.Arg553Leu
ENST00000625514.2:c.1622G>T	ENSP00000486040.1:p.Arg541Leu
ENST00000626839.2:c.1688G>T	ENSP00000486706.1:p.Arg563Leu
ENST00000629241.2:c.1658G>T	ENSP00000487142.1:p.Arg553Leu
ENST00000629318.1:c.350G>T	ENSP00000487384.1:p.Arg117Leu
ENST00000629676.2:c.1658G>T	ENSP00000486194.1:p.Arg553Leu
NM_004518.4:c.1658G>T	NP_004509.2:p.Arg553Leu
NM_172106.1:c.1688G>T	NP_742104.1:p.Arg563Leu
NM_172107.2:c.1742G>T	NP_742105.1:p.Arg581Leu
NM_172108.3:c.1649G>T	NP_742106.1:p.Arg550Leu
XM_006723787.1:c.1742G>T	XP_006723850.1:p.Arg581Leu
XM_011528807.1:c.1742G>T	XP_011527109.1:p.Arg581Leu
XM_011528808.1:c.1739G>T	XP_011527110.1:p.Arg580Leu
XM_011528809.1:c.1712G>T	XP_011527111.1:p.Arg571Leu
XM_011528810.1:c.1688G>T	XP_011527112.1:p.Arg563Leu
XM_011528811.1:c.1658G>T	XP_011527113.1:p.Arg553Leu
XM_011528812.1:c.1739G>T	XP_011527114.1:p.Arg580Leu
XM_011528813.1:c.1616G>T	XP_011527115.1:p.Arg539Leu
XM_011528814.1:c.1223G>T	XP_011527116.1:p.Arg408Leu
XM_011528815.1:c.1742G>T	XP_011527117.1:p.Arg581Leu
NM_004518.5:c.1658G>T	NP_004509.2:p.Arg553Leu
NM_172106.2:c.1688G>T	NP_742104.1:p.Arg563Leu
NM_172107.3:c.1742G>T	NP_742105.1:p.Arg581Leu
NM_172108.4:c.1649G>T	NP_742106.1:p.Arg550Leu
XM_011528810.2:c.1688G>T	XP_011527112.1:p.Arg563Leu
XM_011528811.2:c.1658G>T	XP_011527113.1:p.Arg553Leu
XM_017027841.2:c.1685G>T	XP_016883330.1:p.Arg562Leu
XM_017027842.2:c.1688G>T	XP_016883331.1:p.Arg563Leu
XM_017027843.1:c.1619G>T	XP_016883332.1:p.Arg540Leu
XM_017027844.2:c.1685G>T	XP_016883333.1:p.Arg562Leu
XM_017027845.1:c.650G>T	XP_016883334.1:p.Arg217Leu
NM_004518.6:c.1658G>T	NP_004509.2:p.Arg553Leu
NM_172106.3:c.1688G>T	NP_742104.1:p.Arg563Leu
NM_172107.4:c.1742G>T MANE Select	NP_742105.1:p.Arg581Leu
NM_172108.5:c.1649G>T	NP_742106.1:p.Arg550Leu
NM_001382235.1:c.1688G>T	NP_001369164.1:p.Arg563Leu