Canonical Allele Identifier: CA409637119

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038188A>C (hg19) ; chr20:g.63406835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406835A>C , CM000682.2:g.63406835A>C	GRCh38
NC_000020.10:g.62038188A>C , CM000682.1:g.62038188A>C	GRCh37
NC_000020.9:g.61508632A>C	NCBI36
NG_009004.1:g.70806T>G
NG_009004.2:g.70806T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2482T>G	ENSP00000516702.1:p.Ser828Ala
ENST00000359125.7:c.2428T>G MANE Select	ENSP00000352035.2:p.Ser810Ala
ENST00000637193.1:c.1825T>G	ENSP00000490734.1:p.Ser609Ala
ENST00000344462.8:c.2335T>G	ENSP00000339611.4:p.Ser779Ala
ENST00000357249.6:c.1996T>G	ENSP00000349789.3:p.Ser666Ala
ENST00000359125.6:c.2428T>G	ENSP00000352035.2:p.Ser810Ala
ENST00000360480.7:c.2344T>G	ENSP00000353668.3:p.Ser782Ala
ENST00000370224.5:c.2241+211T>G	ENSP00000359244.2:n.2241+211T>G
ENST00000625514.2:c.2205+211T>G	ENSP00000486040.1:n.2205+211T>G
ENST00000626839.2:c.2374T>G	ENSP00000486706.1:p.Ser792Ala
ENST00000629241.2:c.2133+211T>G	ENSP00000487142.1:n.2133+211T>G
ENST00000629676.2:c.1680-5992T>G	ENSP00000486194.1:n.1680-5992T>G
NM_004518.4:c.2344T>G	NP_004509.2:p.Ser782Ala
NM_172106.1:c.2374T>G	NP_742104.1:p.Ser792Ala
NM_172107.2:c.2428T>G	NP_742105.1:p.Ser810Ala
NM_172108.3:c.2335T>G	NP_742106.1:p.Ser779Ala
XM_006723787.1:c.2470T>G	XP_006723850.1:p.Ser824Ala
XM_011528807.1:c.2536T>G	XP_011527109.1:p.Ser846Ala
XM_011528808.1:c.2533T>G	XP_011527110.1:p.Ser845Ala
XM_011528809.1:c.2506T>G	XP_011527111.1:p.Ser836Ala
XM_011528810.1:c.2482T>G	XP_011527112.1:p.Ser828Ala
XM_011528811.1:c.2452T>G	XP_011527113.1:p.Ser818Ala
XM_011528812.1:c.2425T>G	XP_011527114.1:p.Ser809Ala
XM_011528813.1:c.2410T>G	XP_011527115.1:p.Ser804Ala
XM_011528814.1:c.2017T>G	XP_011527116.1:p.Ser673Ala
NM_004518.5:c.2344T>G	NP_004509.2:p.Ser782Ala
NM_172106.2:c.2374T>G	NP_742104.1:p.Ser792Ala
NM_172107.3:c.2428T>G	NP_742105.1:p.Ser810Ala
NM_172108.4:c.2335T>G	NP_742106.1:p.Ser779Ala
XM_011528810.2:c.2482T>G	XP_011527112.1:p.Ser828Ala
XM_011528811.2:c.2452T>G	XP_011527113.1:p.Ser818Ala
XM_017027841.2:c.2479T>G	XP_016883330.1:p.Ser827Ala
XM_017027842.2:c.2416T>G	XP_016883331.1:p.Ser806Ala
XM_017027843.1:c.2413T>G	XP_016883332.1:p.Ser805Ala
XM_017027844.2:c.2371T>G	XP_016883333.1:p.Ser791Ala
XM_017027845.1:c.1444T>G	XP_016883334.1:p.Ser482Ala
NM_004518.6:c.2344T>G	NP_004509.2:p.Ser782Ala
NM_172106.3:c.2374T>G	NP_742104.1:p.Ser792Ala
NM_172107.4:c.2428T>G MANE Select	NP_742105.1:p.Ser810Ala
NM_172108.5:c.2335T>G	NP_742106.1:p.Ser779Ala
NM_001382235.1:c.2482T>G	NP_001369164.1:p.Ser828Ala