Canonical Allele Identifier: CA9958145

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 413249
• ClinVar RCV Id: RCV000472939 ; RCV001683508
• dbSNP Id: rs777993694
• ExAC: 20:62038498 G / A
• gnomAD v2: 20-62038498-G-A
• gnomAD v3: 20-63407145-G-A
• gnomAD v4: 20-63407145-G-A
• MyVariant Identifiers: chr20:g.62038498G>A (hg19) ; chr20:g.63407145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407145G>A , CM000682.2:g.63407145G>A	GRCh38
NC_000020.10:g.62038498G>A , CM000682.1:g.62038498G>A	GRCh37
NC_000020.9:g.61508942G>A	NCBI36
NG_009004.1:g.70496C>T
NG_009004.2:g.70496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2172C>T	ENSP00000516702.1:p.Ala724=
ENST00000359125.7:c.2118C>T MANE Select	ENSP00000352035.2:p.Ala706=
ENST00000637193.1:c.1515C>T	ENSP00000490734.1:p.Ala505=
ENST00000344462.8:c.2025C>T	ENSP00000339611.4:p.Ala675=
ENST00000357249.6:c.1686C>T	ENSP00000349789.3:p.Ala562=
ENST00000359125.6:c.2118C>T	ENSP00000352035.2:p.Ala706=
ENST00000360480.7:c.2034C>T	ENSP00000353668.3:p.Ala678=
ENST00000370224.5:c.2142C>T	ENSP00000359244.2:p.Ala714=
ENST00000625514.2:c.2106C>T	ENSP00000486040.1:p.Ala702=
ENST00000626839.2:c.2064C>T	ENSP00000486706.1:p.Ala688=
ENST00000629241.2:c.2034C>T	ENSP00000487142.1:p.Ala678=
ENST00000629676.2:c.1680-6302C>T	ENSP00000486194.1:n.1680-6302C>T
NM_004518.4:c.2034C>T	NP_004509.2:p.Ala678=
NM_172106.1:c.2064C>T	NP_742104.1:p.Ala688=
NM_172107.2:c.2118C>T	NP_742105.1:p.Ala706=
NM_172108.3:c.2025C>T	NP_742106.1:p.Ala675=
XM_006723787.1:c.2160C>T	XP_006723850.1:p.Ala720=
XM_011528807.1:c.2226C>T	XP_011527109.1:p.Ala742=
XM_011528808.1:c.2223C>T	XP_011527110.1:p.Ala741=
XM_011528809.1:c.2196C>T	XP_011527111.1:p.Ala732=
XM_011528810.1:c.2172C>T	XP_011527112.1:p.Ala724=
XM_011528811.1:c.2142C>T	XP_011527113.1:p.Ala714=
XM_011528812.1:c.2115C>T	XP_011527114.1:p.Ala705=
XM_011528813.1:c.2100C>T	XP_011527115.1:p.Ala700=
XM_011528814.1:c.1707C>T	XP_011527116.1:p.Ala569=
NM_004518.5:c.2034C>T	NP_004509.2:p.Ala678=
NM_172106.2:c.2064C>T	NP_742104.1:p.Ala688=
NM_172107.3:c.2118C>T	NP_742105.1:p.Ala706=
NM_172108.4:c.2025C>T	NP_742106.1:p.Ala675=
XM_011528810.2:c.2172C>T	XP_011527112.1:p.Ala724=
XM_011528811.2:c.2142C>T	XP_011527113.1:p.Ala714=
XM_017027841.2:c.2169C>T	XP_016883330.1:p.Ala723=
XM_017027842.2:c.2106C>T	XP_016883331.1:p.Ala702=
XM_017027843.1:c.2103C>T	XP_016883332.1:p.Ala701=
XM_017027844.2:c.2061C>T	XP_016883333.1:p.Ala687=
XM_017027845.1:c.1134C>T	XP_016883334.1:p.Ala378=
NM_004518.6:c.2034C>T	NP_004509.2:p.Ala678=
NM_172106.3:c.2064C>T	NP_742104.1:p.Ala688=
NM_172107.4:c.2118C>T MANE Select	NP_742105.1:p.Ala706=
NM_172108.5:c.2025C>T	NP_742106.1:p.Ala675=
NM_001382235.1:c.2172C>T	NP_001369164.1:p.Ala724=