Canonical Allele Identifier: CA409637256

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038215A>C (hg19) ; chr20:g.63406862A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406862A>C , CM000682.2:g.63406862A>C	GRCh38
NC_000020.10:g.62038215A>C , CM000682.1:g.62038215A>C	GRCh37
NC_000020.9:g.61508659A>C	NCBI36
NG_009004.1:g.70779T>G
NG_009004.2:g.70779T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2455T>G	ENSP00000516702.1:p.Ser819Ala
ENST00000359125.7:c.2401T>G MANE Select	ENSP00000352035.2:p.Ser801Ala
ENST00000637193.1:c.1798T>G	ENSP00000490734.1:p.Ser600Ala
ENST00000344462.8:c.2308T>G	ENSP00000339611.4:p.Ser770Ala
ENST00000357249.6:c.1969T>G	ENSP00000349789.3:p.Ser657Ala
ENST00000359125.6:c.2401T>G	ENSP00000352035.2:p.Ser801Ala
ENST00000360480.7:c.2317T>G	ENSP00000353668.3:p.Ser773Ala
ENST00000370224.5:c.2241+184T>G	ENSP00000359244.2:n.2241+184T>G
ENST00000625514.2:c.2205+184T>G	ENSP00000486040.1:n.2205+184T>G
ENST00000626839.2:c.2347T>G	ENSP00000486706.1:p.Ser783Ala
ENST00000629241.2:c.2133+184T>G	ENSP00000487142.1:n.2133+184T>G
ENST00000629676.2:c.1680-6019T>G	ENSP00000486194.1:n.1680-6019T>G
NM_004518.4:c.2317T>G	NP_004509.2:p.Ser773Ala
NM_172106.1:c.2347T>G	NP_742104.1:p.Ser783Ala
NM_172107.2:c.2401T>G	NP_742105.1:p.Ser801Ala
NM_172108.3:c.2308T>G	NP_742106.1:p.Ser770Ala
XM_006723787.1:c.2443T>G	XP_006723850.1:p.Ser815Ala
XM_011528807.1:c.2509T>G	XP_011527109.1:p.Ser837Ala
XM_011528808.1:c.2506T>G	XP_011527110.1:p.Ser836Ala
XM_011528809.1:c.2479T>G	XP_011527111.1:p.Ser827Ala
XM_011528810.1:c.2455T>G	XP_011527112.1:p.Ser819Ala
XM_011528811.1:c.2425T>G	XP_011527113.1:p.Ser809Ala
XM_011528812.1:c.2398T>G	XP_011527114.1:p.Ser800Ala
XM_011528813.1:c.2383T>G	XP_011527115.1:p.Ser795Ala
XM_011528814.1:c.1990T>G	XP_011527116.1:p.Ser664Ala
NM_004518.5:c.2317T>G	NP_004509.2:p.Ser773Ala
NM_172106.2:c.2347T>G	NP_742104.1:p.Ser783Ala
NM_172107.3:c.2401T>G	NP_742105.1:p.Ser801Ala
NM_172108.4:c.2308T>G	NP_742106.1:p.Ser770Ala
XM_011528810.2:c.2455T>G	XP_011527112.1:p.Ser819Ala
XM_011528811.2:c.2425T>G	XP_011527113.1:p.Ser809Ala
XM_017027841.2:c.2452T>G	XP_016883330.1:p.Ser818Ala
XM_017027842.2:c.2389T>G	XP_016883331.1:p.Ser797Ala
XM_017027843.1:c.2386T>G	XP_016883332.1:p.Ser796Ala
XM_017027844.2:c.2344T>G	XP_016883333.1:p.Ser782Ala
XM_017027845.1:c.1417T>G	XP_016883334.1:p.Ser473Ala
NM_004518.6:c.2317T>G	NP_004509.2:p.Ser773Ala
NM_172106.3:c.2347T>G	NP_742104.1:p.Ser783Ala
NM_172107.4:c.2401T>G MANE Select	NP_742105.1:p.Ser801Ala
NM_172108.5:c.2308T>G	NP_742106.1:p.Ser770Ala
NM_001382235.1:c.2455T>G	NP_001369164.1:p.Ser819Ala