Canonical Allele Identifier: CA409637276

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038219C>G (hg19) ; chr20:g.63406866C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406866C>G , CM000682.2:g.63406866C>G	GRCh38
NC_000020.10:g.62038219C>G , CM000682.1:g.62038219C>G	GRCh37
NC_000020.9:g.61508663C>G	NCBI36
NG_009004.1:g.70775G>C
NG_009004.2:g.70775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2451G>C	ENSP00000516702.1:p.Glu817Asp
ENST00000359125.7:c.2397G>C MANE Select	ENSP00000352035.2:p.Glu799Asp
ENST00000637193.1:c.1794G>C	ENSP00000490734.1:p.Glu598Asp
ENST00000344462.8:c.2304G>C	ENSP00000339611.4:p.Glu768Asp
ENST00000357249.6:c.1965G>C	ENSP00000349789.3:p.Glu655Asp
ENST00000359125.6:c.2397G>C	ENSP00000352035.2:p.Glu799Asp
ENST00000360480.7:c.2313G>C	ENSP00000353668.3:p.Glu771Asp
ENST00000370224.5:c.2241+180G>C	ENSP00000359244.2:n.2241+180G>C
ENST00000625514.2:c.2205+180G>C	ENSP00000486040.1:n.2205+180G>C
ENST00000626839.2:c.2343G>C	ENSP00000486706.1:p.Glu781Asp
ENST00000629241.2:c.2133+180G>C	ENSP00000487142.1:n.2133+180G>C
ENST00000629676.2:c.1680-6023G>C	ENSP00000486194.1:n.1680-6023G>C
NM_004518.4:c.2313G>C	NP_004509.2:p.Glu771Asp
NM_172106.1:c.2343G>C	NP_742104.1:p.Glu781Asp
NM_172107.2:c.2397G>C	NP_742105.1:p.Glu799Asp
NM_172108.3:c.2304G>C	NP_742106.1:p.Glu768Asp
XM_006723787.1:c.2439G>C	XP_006723850.1:p.Glu813Asp
XM_011528807.1:c.2505G>C	XP_011527109.1:p.Glu835Asp
XM_011528808.1:c.2502G>C	XP_011527110.1:p.Glu834Asp
XM_011528809.1:c.2475G>C	XP_011527111.1:p.Glu825Asp
XM_011528810.1:c.2451G>C	XP_011527112.1:p.Glu817Asp
XM_011528811.1:c.2421G>C	XP_011527113.1:p.Glu807Asp
XM_011528812.1:c.2394G>C	XP_011527114.1:p.Glu798Asp
XM_011528813.1:c.2379G>C	XP_011527115.1:p.Glu793Asp
XM_011528814.1:c.1986G>C	XP_011527116.1:p.Glu662Asp
NM_004518.5:c.2313G>C	NP_004509.2:p.Glu771Asp
NM_172106.2:c.2343G>C	NP_742104.1:p.Glu781Asp
NM_172107.3:c.2397G>C	NP_742105.1:p.Glu799Asp
NM_172108.4:c.2304G>C	NP_742106.1:p.Glu768Asp
XM_011528810.2:c.2451G>C	XP_011527112.1:p.Glu817Asp
XM_011528811.2:c.2421G>C	XP_011527113.1:p.Glu807Asp
XM_017027841.2:c.2448G>C	XP_016883330.1:p.Glu816Asp
XM_017027842.2:c.2385G>C	XP_016883331.1:p.Glu795Asp
XM_017027843.1:c.2382G>C	XP_016883332.1:p.Glu794Asp
XM_017027844.2:c.2340G>C	XP_016883333.1:p.Glu780Asp
XM_017027845.1:c.1413G>C	XP_016883334.1:p.Glu471Asp
NM_004518.6:c.2313G>C	NP_004509.2:p.Glu771Asp
NM_172106.3:c.2343G>C	NP_742104.1:p.Glu781Asp
NM_172107.4:c.2397G>C MANE Select	NP_742105.1:p.Glu799Asp
NM_172108.5:c.2304G>C	NP_742106.1:p.Glu768Asp
NM_001382235.1:c.2451G>C	NP_001369164.1:p.Glu817Asp