Canonical Allele Identifier: CA409637523

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038257A>G (hg19) ; chr20:g.63406904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406904A>G , CM000682.2:g.63406904A>G	GRCh38
NC_000020.10:g.62038257A>G , CM000682.1:g.62038257A>G	GRCh37
NC_000020.9:g.61508701A>G	NCBI36
NG_009004.1:g.70737T>C
NG_009004.2:g.70737T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2413T>C	ENSP00000516702.1:p.Ser805Pro
ENST00000359125.7:c.2359T>C MANE Select	ENSP00000352035.2:p.Ser787Pro
ENST00000637193.1:c.1756T>C	ENSP00000490734.1:p.Ser586Pro
ENST00000344462.8:c.2266T>C	ENSP00000339611.4:p.Ser756Pro
ENST00000357249.6:c.1927T>C	ENSP00000349789.3:p.Ser643Pro
ENST00000359125.6:c.2359T>C	ENSP00000352035.2:p.Ser787Pro
ENST00000360480.7:c.2275T>C	ENSP00000353668.3:p.Ser759Pro
ENST00000370224.5:c.2241+142T>C	ENSP00000359244.2:n.2241+142T>C
ENST00000625514.2:c.2205+142T>C	ENSP00000486040.1:n.2205+142T>C
ENST00000626839.2:c.2305T>C	ENSP00000486706.1:p.Ser769Pro
ENST00000629241.2:c.2133+142T>C	ENSP00000487142.1:n.2133+142T>C
ENST00000629676.2:c.1680-6061T>C	ENSP00000486194.1:n.1680-6061T>C
NM_004518.4:c.2275T>C	NP_004509.2:p.Ser759Pro
NM_172106.1:c.2305T>C	NP_742104.1:p.Ser769Pro
NM_172107.2:c.2359T>C	NP_742105.1:p.Ser787Pro
NM_172108.3:c.2266T>C	NP_742106.1:p.Ser756Pro
XM_006723787.1:c.2401T>C	XP_006723850.1:p.Ser801Pro
XM_011528807.1:c.2467T>C	XP_011527109.1:p.Ser823Pro
XM_011528808.1:c.2464T>C	XP_011527110.1:p.Ser822Pro
XM_011528809.1:c.2437T>C	XP_011527111.1:p.Ser813Pro
XM_011528810.1:c.2413T>C	XP_011527112.1:p.Ser805Pro
XM_011528811.1:c.2383T>C	XP_011527113.1:p.Ser795Pro
XM_011528812.1:c.2356T>C	XP_011527114.1:p.Ser786Pro
XM_011528813.1:c.2341T>C	XP_011527115.1:p.Ser781Pro
XM_011528814.1:c.1948T>C	XP_011527116.1:p.Ser650Pro
NM_004518.5:c.2275T>C	NP_004509.2:p.Ser759Pro
NM_172106.2:c.2305T>C	NP_742104.1:p.Ser769Pro
NM_172107.3:c.2359T>C	NP_742105.1:p.Ser787Pro
NM_172108.4:c.2266T>C	NP_742106.1:p.Ser756Pro
XM_011528810.2:c.2413T>C	XP_011527112.1:p.Ser805Pro
XM_011528811.2:c.2383T>C	XP_011527113.1:p.Ser795Pro
XM_017027841.2:c.2410T>C	XP_016883330.1:p.Ser804Pro
XM_017027842.2:c.2347T>C	XP_016883331.1:p.Ser783Pro
XM_017027843.1:c.2344T>C	XP_016883332.1:p.Ser782Pro
XM_017027844.2:c.2302T>C	XP_016883333.1:p.Ser768Pro
XM_017027845.1:c.1375T>C	XP_016883334.1:p.Ser459Pro
NM_004518.6:c.2275T>C	NP_004509.2:p.Ser759Pro
NM_172106.3:c.2305T>C	NP_742104.1:p.Ser769Pro
NM_172107.4:c.2359T>C MANE Select	NP_742105.1:p.Ser787Pro
NM_172108.5:c.2266T>C	NP_742106.1:p.Ser756Pro
NM_001382235.1:c.2413T>C	NP_001369164.1:p.Ser805Pro