Canonical Allele Identifier: CA511339330

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038159G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406806G>A , CM000682.2:g.63406806G>A	GRCh38
NC_000020.10:g.62038159G>A , CM000682.1:g.62038159G>A	GRCh37
NC_000020.9:g.61508603G>A	NCBI36
NG_009004.1:g.70835C>T
NG_009004.2:g.70835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2511C>T	ENSP00000516702.1:p.Ser837=
ENST00000359125.7:c.2457C>T MANE Select	ENSP00000352035.2:p.Ser819=
ENST00000637193.1:c.1854C>T	ENSP00000490734.1:p.Ser618=
ENST00000344462.8:c.2364C>T	ENSP00000339611.4:p.Ser788=
ENST00000357249.6:c.2025C>T	ENSP00000349789.3:p.Ser675=
ENST00000359125.6:c.2457C>T	ENSP00000352035.2:p.Ser819=
ENST00000360480.7:c.2373C>T	ENSP00000353668.3:p.Ser791=
ENST00000370224.5:c.2241+240C>T	ENSP00000359244.2:n.2241+240C>T
ENST00000625514.2:c.2205+240C>T	ENSP00000486040.1:n.2205+240C>T
ENST00000626839.2:c.2403C>T	ENSP00000486706.1:p.Ser801=
ENST00000629241.2:c.2133+240C>T	ENSP00000487142.1:n.2133+240C>T
ENST00000629676.2:c.1680-5963C>T	ENSP00000486194.1:n.1680-5963C>T
NM_004518.4:c.2373C>T	NP_004509.2:p.Ser791=
NM_172106.1:c.2403C>T	NP_742104.1:p.Ser801=
NM_172107.2:c.2457C>T	NP_742105.1:p.Ser819=
NM_172108.3:c.2364C>T	NP_742106.1:p.Ser788=
XM_006723787.1:c.2499C>T	XP_006723850.1:p.Ser833=
XM_011528807.1:c.2565C>T	XP_011527109.1:p.Ser855=
XM_011528808.1:c.2562C>T	XP_011527110.1:p.Ser854=
XM_011528809.1:c.2535C>T	XP_011527111.1:p.Ser845=
XM_011528810.1:c.2511C>T	XP_011527112.1:p.Ser837=
XM_011528811.1:c.2481C>T	XP_011527113.1:p.Ser827=
XM_011528812.1:c.2454C>T	XP_011527114.1:p.Ser818=
XM_011528813.1:c.2439C>T	XP_011527115.1:p.Ser813=
XM_011528814.1:c.2046C>T	XP_011527116.1:p.Ser682=
NM_004518.5:c.2373C>T	NP_004509.2:p.Ser791=
NM_172106.2:c.2403C>T	NP_742104.1:p.Ser801=
NM_172107.3:c.2457C>T	NP_742105.1:p.Ser819=
NM_172108.4:c.2364C>T	NP_742106.1:p.Ser788=
XM_011528810.2:c.2511C>T	XP_011527112.1:p.Ser837=
XM_011528811.2:c.2481C>T	XP_011527113.1:p.Ser827=
XM_017027841.2:c.2508C>T	XP_016883330.1:p.Ser836=
XM_017027842.2:c.2445C>T	XP_016883331.1:p.Ser815=
XM_017027843.1:c.2442C>T	XP_016883332.1:p.Ser814=
XM_017027844.2:c.2400C>T	XP_016883333.1:p.Ser800=
XM_017027845.1:c.1473C>T	XP_016883334.1:p.Ser491=
NM_004518.6:c.2373C>T	NP_004509.2:p.Ser791=
NM_172106.3:c.2403C>T	NP_742104.1:p.Ser801=
NM_172107.4:c.2457C>T MANE Select	NP_742105.1:p.Ser819=
NM_172108.5:c.2364C>T	NP_742106.1:p.Ser788=
NM_001382235.1:c.2511C>T	NP_001369164.1:p.Ser837=