Canonical Allele Identifier: CA9958155

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1117710
• ClinVar RCV Id: RCV001446543
• dbSNP Id: rs776224647
• ExAC: 20:62038528 C / T
• gnomAD v2: 20-62038528-C-T
• gnomAD v3: 20-63407175-C-T
• gnomAD v4: 20-63407175-C-T
• MyVariant Identifiers: chr20:g.62038528C>T (hg19) ; chr20:g.63407175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407175C>T , CM000682.2:g.63407175C>T	GRCh38
NC_000020.10:g.62038528C>T , CM000682.1:g.62038528C>T	GRCh37
NC_000020.9:g.61508972C>T	NCBI36
NG_009004.1:g.70466G>A
NG_009004.2:g.70466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2142G>A	ENSP00000516702.1:p.Thr714=
ENST00000359125.7:c.2088G>A MANE Select	ENSP00000352035.2:p.Thr696=
ENST00000637193.1:c.1485G>A	ENSP00000490734.1:p.Thr495=
ENST00000344462.8:c.1995G>A	ENSP00000339611.4:p.Thr665=
ENST00000357249.6:c.1656G>A	ENSP00000349789.3:p.Thr552=
ENST00000359125.6:c.2088G>A	ENSP00000352035.2:p.Thr696=
ENST00000360480.7:c.2004G>A	ENSP00000353668.3:p.Thr668=
ENST00000370224.5:c.2112G>A	ENSP00000359244.2:p.Thr704=
ENST00000625514.2:c.2076G>A	ENSP00000486040.1:p.Thr692=
ENST00000626839.2:c.2034G>A	ENSP00000486706.1:p.Thr678=
ENST00000629241.2:c.2004G>A	ENSP00000487142.1:p.Thr668=
ENST00000629676.2:c.1679+6275G>A	ENSP00000486194.1:n.1679+6275G>A
NM_004518.4:c.2004G>A	NP_004509.2:p.Thr668=
NM_172106.1:c.2034G>A	NP_742104.1:p.Thr678=
NM_172107.2:c.2088G>A	NP_742105.1:p.Thr696=
NM_172108.3:c.1995G>A	NP_742106.1:p.Thr665=
XM_006723787.1:c.2130G>A	XP_006723850.1:p.Thr710=
XM_011528807.1:c.2196G>A	XP_011527109.1:p.Thr732=
XM_011528808.1:c.2193G>A	XP_011527110.1:p.Thr731=
XM_011528809.1:c.2166G>A	XP_011527111.1:p.Thr722=
XM_011528810.1:c.2142G>A	XP_011527112.1:p.Thr714=
XM_011528811.1:c.2112G>A	XP_011527113.1:p.Thr704=
XM_011528812.1:c.2085G>A	XP_011527114.1:p.Thr695=
XM_011528813.1:c.2070G>A	XP_011527115.1:p.Thr690=
XM_011528814.1:c.1677G>A	XP_011527116.1:p.Thr559=
NM_004518.5:c.2004G>A	NP_004509.2:p.Thr668=
NM_172106.2:c.2034G>A	NP_742104.1:p.Thr678=
NM_172107.3:c.2088G>A	NP_742105.1:p.Thr696=
NM_172108.4:c.1995G>A	NP_742106.1:p.Thr665=
XM_011528810.2:c.2142G>A	XP_011527112.1:p.Thr714=
XM_011528811.2:c.2112G>A	XP_011527113.1:p.Thr704=
XM_017027841.2:c.2139G>A	XP_016883330.1:p.Thr713=
XM_017027842.2:c.2076G>A	XP_016883331.1:p.Thr692=
XM_017027843.1:c.2073G>A	XP_016883332.1:p.Thr691=
XM_017027844.2:c.2031G>A	XP_016883333.1:p.Thr677=
XM_017027845.1:c.1104G>A	XP_016883334.1:p.Thr368=
NM_004518.6:c.2004G>A	NP_004509.2:p.Thr668=
NM_172106.3:c.2034G>A	NP_742104.1:p.Thr678=
NM_172107.4:c.2088G>A MANE Select	NP_742105.1:p.Thr696=
NM_172108.5:c.1995G>A	NP_742106.1:p.Thr665=
NM_001382235.1:c.2142G>A	NP_001369164.1:p.Thr714=