Canonical Allele Identifier: CA16608020

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 379891
• ClinVar RCV Id: RCV000439202
• dbSNP Id: rs1057520773
• MyVariant Identifiers: chr20:g.62044880G>T (hg19) ; chr20:g.63413527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413527G>T , CM000682.2:g.63413527G>T	GRCh38
NC_000020.10:g.62044880G>T , CM000682.1:g.62044880G>T	GRCh37
NC_000020.9:g.61515324G>T	NCBI36
NG_009004.1:g.64114C>A
NG_009004.2:g.64114C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1632C>A	ENSP00000516702.1:p.Tyr544Ter
ENST00000359125.7:c.1686C>A MANE Select	ENSP00000352035.2:p.Tyr562Ter
ENST00000637193.1:c.1083C>A	ENSP00000490734.1:p.Tyr361Ter
ENST00000344462.8:c.1593C>A	ENSP00000339611.4:p.Tyr531Ter
ENST00000357249.6:c.1254C>A	ENSP00000349789.3:p.Tyr418Ter
ENST00000359125.6:c.1686C>A	ENSP00000352035.2:p.Tyr562Ter
ENST00000360480.7:c.1602C>A	ENSP00000353668.3:p.Tyr534Ter
ENST00000370224.5:c.1602C>A	ENSP00000359244.2:p.Tyr534Ter
ENST00000625514.2:c.1566C>A	ENSP00000486040.1:p.Tyr522Ter
ENST00000626839.2:c.1632C>A	ENSP00000486706.1:p.Tyr544Ter
ENST00000629241.2:c.1602C>A	ENSP00000487142.1:p.Tyr534Ter
ENST00000629318.1:c.294C>A	ENSP00000487384.1:p.Tyr98Ter
ENST00000629676.2:c.1602C>A	ENSP00000486194.1:p.Tyr534Ter
NM_004518.4:c.1602C>A	NP_004509.2:p.Tyr534Ter
NM_172106.1:c.1632C>A	NP_742104.1:p.Tyr544Ter
NM_172107.2:c.1686C>A	NP_742105.1:p.Tyr562Ter
NM_172108.3:c.1593C>A	NP_742106.1:p.Tyr531Ter
XM_006723787.1:c.1686C>A	XP_006723850.1:p.Tyr562Ter
XM_011528807.1:c.1686C>A	XP_011527109.1:p.Tyr562Ter
XM_011528808.1:c.1683C>A	XP_011527110.1:p.Tyr561Ter
XM_011528809.1:c.1656C>A	XP_011527111.1:p.Tyr552Ter
XM_011528810.1:c.1632C>A	XP_011527112.1:p.Tyr544Ter
XM_011528811.1:c.1602C>A	XP_011527113.1:p.Tyr534Ter
XM_011528812.1:c.1683C>A	XP_011527114.1:p.Tyr561Ter
XM_011528813.1:c.1560C>A	XP_011527115.1:p.Tyr520Ter
XM_011528814.1:c.1167C>A	XP_011527116.1:p.Tyr389Ter
XM_011528815.1:c.1686C>A	XP_011527117.1:p.Tyr562Ter
NM_004518.5:c.1602C>A	NP_004509.2:p.Tyr534Ter
NM_172106.2:c.1632C>A	NP_742104.1:p.Tyr544Ter
NM_172107.3:c.1686C>A	NP_742105.1:p.Tyr562Ter
NM_172108.4:c.1593C>A	NP_742106.1:p.Tyr531Ter
XM_011528810.2:c.1632C>A	XP_011527112.1:p.Tyr544Ter
XM_011528811.2:c.1602C>A	XP_011527113.1:p.Tyr534Ter
XM_017027841.2:c.1629C>A	XP_016883330.1:p.Tyr543Ter
XM_017027842.2:c.1632C>A	XP_016883331.1:p.Tyr544Ter
XM_017027843.1:c.1563C>A	XP_016883332.1:p.Tyr521Ter
XM_017027844.2:c.1629C>A	XP_016883333.1:p.Tyr543Ter
XM_017027845.1:c.594C>A	XP_016883334.1:p.Tyr198Ter
NM_004518.6:c.1602C>A	NP_004509.2:p.Tyr534Ter
NM_172106.3:c.1632C>A	NP_742104.1:p.Tyr544Ter
NM_172107.4:c.1686C>A MANE Select	NP_742105.1:p.Tyr562Ter
NM_172108.5:c.1593C>A	NP_742106.1:p.Tyr531Ter
NM_001382235.1:c.1632C>A	NP_001369164.1:p.Tyr544Ter