Canonical Allele Identifier: CA409637040

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038169G>T (hg19) ; chr20:g.63406816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406816G>T , CM000682.2:g.63406816G>T	GRCh38
NC_000020.10:g.62038169G>T , CM000682.1:g.62038169G>T	GRCh37
NC_000020.9:g.61508613G>T	NCBI36
NG_009004.1:g.70825C>A
NG_009004.2:g.70825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2501C>A	ENSP00000516702.1:p.Ala834Asp
ENST00000359125.7:c.2447C>A MANE Select	ENSP00000352035.2:p.Ala816Asp
ENST00000637193.1:c.1844C>A	ENSP00000490734.1:p.Ala615Asp
ENST00000344462.8:c.2354C>A	ENSP00000339611.4:p.Ala785Asp
ENST00000357249.6:c.2015C>A	ENSP00000349789.3:p.Ala672Asp
ENST00000359125.6:c.2447C>A	ENSP00000352035.2:p.Ala816Asp
ENST00000360480.7:c.2363C>A	ENSP00000353668.3:p.Ala788Asp
ENST00000370224.5:c.2241+230C>A	ENSP00000359244.2:n.2241+230C>A
ENST00000625514.2:c.2205+230C>A	ENSP00000486040.1:n.2205+230C>A
ENST00000626839.2:c.2393C>A	ENSP00000486706.1:p.Ala798Asp
ENST00000629241.2:c.2133+230C>A	ENSP00000487142.1:n.2133+230C>A
ENST00000629676.2:c.1680-5973C>A	ENSP00000486194.1:n.1680-5973C>A
NM_004518.4:c.2363C>A	NP_004509.2:p.Ala788Asp
NM_172106.1:c.2393C>A	NP_742104.1:p.Ala798Asp
NM_172107.2:c.2447C>A	NP_742105.1:p.Ala816Asp
NM_172108.3:c.2354C>A	NP_742106.1:p.Ala785Asp
XM_006723787.1:c.2489C>A	XP_006723850.1:p.Ala830Asp
XM_011528807.1:c.2555C>A	XP_011527109.1:p.Ala852Asp
XM_011528808.1:c.2552C>A	XP_011527110.1:p.Ala851Asp
XM_011528809.1:c.2525C>A	XP_011527111.1:p.Ala842Asp
XM_011528810.1:c.2501C>A	XP_011527112.1:p.Ala834Asp
XM_011528811.1:c.2471C>A	XP_011527113.1:p.Ala824Asp
XM_011528812.1:c.2444C>A	XP_011527114.1:p.Ala815Asp
XM_011528813.1:c.2429C>A	XP_011527115.1:p.Ala810Asp
XM_011528814.1:c.2036C>A	XP_011527116.1:p.Ala679Asp
NM_004518.5:c.2363C>A	NP_004509.2:p.Ala788Asp
NM_172106.2:c.2393C>A	NP_742104.1:p.Ala798Asp
NM_172107.3:c.2447C>A	NP_742105.1:p.Ala816Asp
NM_172108.4:c.2354C>A	NP_742106.1:p.Ala785Asp
XM_011528810.2:c.2501C>A	XP_011527112.1:p.Ala834Asp
XM_011528811.2:c.2471C>A	XP_011527113.1:p.Ala824Asp
XM_017027841.2:c.2498C>A	XP_016883330.1:p.Ala833Asp
XM_017027842.2:c.2435C>A	XP_016883331.1:p.Ala812Asp
XM_017027843.1:c.2432C>A	XP_016883332.1:p.Ala811Asp
XM_017027844.2:c.2390C>A	XP_016883333.1:p.Ala797Asp
XM_017027845.1:c.1463C>A	XP_016883334.1:p.Ala488Asp
NM_004518.6:c.2363C>A	NP_004509.2:p.Ala788Asp
NM_172106.3:c.2393C>A	NP_742104.1:p.Ala798Asp
NM_172107.4:c.2447C>A MANE Select	NP_742105.1:p.Ala816Asp
NM_172108.5:c.2354C>A	NP_742106.1:p.Ala785Asp
NM_001382235.1:c.2501C>A	NP_001369164.1:p.Ala834Asp