Canonical Allele Identifier: CA511339435

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406872-C-T
• MyVariant Identifiers: chr20:g.62038225C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406872C>T , CM000682.2:g.63406872C>T	GRCh38
NC_000020.10:g.62038225C>T , CM000682.1:g.62038225C>T	GRCh37
NC_000020.9:g.61508669C>T	NCBI36
NG_009004.1:g.70769G>A
NG_009004.2:g.70769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2445G>A	ENSP00000516702.1:p.Glu815=
ENST00000359125.7:c.2391G>A MANE Select	ENSP00000352035.2:p.Glu797=
ENST00000637193.1:c.1788G>A	ENSP00000490734.1:p.Glu596=
ENST00000344462.8:c.2298G>A	ENSP00000339611.4:p.Glu766=
ENST00000357249.6:c.1959G>A	ENSP00000349789.3:p.Glu653=
ENST00000359125.6:c.2391G>A	ENSP00000352035.2:p.Glu797=
ENST00000360480.7:c.2307G>A	ENSP00000353668.3:p.Glu769=
ENST00000370224.5:c.2241+174G>A	ENSP00000359244.2:n.2241+174G>A
ENST00000625514.2:c.2205+174G>A	ENSP00000486040.1:n.2205+174G>A
ENST00000626839.2:c.2337G>A	ENSP00000486706.1:p.Glu779=
ENST00000629241.2:c.2133+174G>A	ENSP00000487142.1:n.2133+174G>A
ENST00000629676.2:c.1680-6029G>A	ENSP00000486194.1:n.1680-6029G>A
NM_004518.4:c.2307G>A	NP_004509.2:p.Glu769=
NM_172106.1:c.2337G>A	NP_742104.1:p.Glu779=
NM_172107.2:c.2391G>A	NP_742105.1:p.Glu797=
NM_172108.3:c.2298G>A	NP_742106.1:p.Glu766=
XM_006723787.1:c.2433G>A	XP_006723850.1:p.Glu811=
XM_011528807.1:c.2499G>A	XP_011527109.1:p.Glu833=
XM_011528808.1:c.2496G>A	XP_011527110.1:p.Glu832=
XM_011528809.1:c.2469G>A	XP_011527111.1:p.Glu823=
XM_011528810.1:c.2445G>A	XP_011527112.1:p.Glu815=
XM_011528811.1:c.2415G>A	XP_011527113.1:p.Glu805=
XM_011528812.1:c.2388G>A	XP_011527114.1:p.Glu796=
XM_011528813.1:c.2373G>A	XP_011527115.1:p.Glu791=
XM_011528814.1:c.1980G>A	XP_011527116.1:p.Glu660=
NM_004518.5:c.2307G>A	NP_004509.2:p.Glu769=
NM_172106.2:c.2337G>A	NP_742104.1:p.Glu779=
NM_172107.3:c.2391G>A	NP_742105.1:p.Glu797=
NM_172108.4:c.2298G>A	NP_742106.1:p.Glu766=
XM_011528810.2:c.2445G>A	XP_011527112.1:p.Glu815=
XM_011528811.2:c.2415G>A	XP_011527113.1:p.Glu805=
XM_017027841.2:c.2442G>A	XP_016883330.1:p.Glu814=
XM_017027842.2:c.2379G>A	XP_016883331.1:p.Glu793=
XM_017027843.1:c.2376G>A	XP_016883332.1:p.Glu792=
XM_017027844.2:c.2334G>A	XP_016883333.1:p.Glu778=
XM_017027845.1:c.1407G>A	XP_016883334.1:p.Glu469=
NM_004518.6:c.2307G>A	NP_004509.2:p.Glu769=
NM_172106.3:c.2337G>A	NP_742104.1:p.Glu779=
NM_172107.4:c.2391G>A MANE Select	NP_742105.1:p.Glu797=
NM_172108.5:c.2298G>A	NP_742106.1:p.Glu766=
NM_001382235.1:c.2445G>A	NP_001369164.1:p.Glu815=