Canonical Allele Identifier: CA409637493

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038253A>C (hg19) ; chr20:g.63406900A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406900A>C , CM000682.2:g.63406900A>C	GRCh38
NC_000020.10:g.62038253A>C , CM000682.1:g.62038253A>C	GRCh37
NC_000020.9:g.61508697A>C	NCBI36
NG_009004.1:g.70741T>G
NG_009004.2:g.70741T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2417T>G	ENSP00000516702.1:p.Ile806Ser
ENST00000359125.7:c.2363T>G MANE Select	ENSP00000352035.2:p.Ile788Ser
ENST00000637193.1:c.1760T>G	ENSP00000490734.1:p.Ile587Ser
ENST00000344462.8:c.2270T>G	ENSP00000339611.4:p.Ile757Ser
ENST00000357249.6:c.1931T>G	ENSP00000349789.3:p.Ile644Ser
ENST00000359125.6:c.2363T>G	ENSP00000352035.2:p.Ile788Ser
ENST00000360480.7:c.2279T>G	ENSP00000353668.3:p.Ile760Ser
ENST00000370224.5:c.2241+146T>G	ENSP00000359244.2:n.2241+146T>G
ENST00000625514.2:c.2205+146T>G	ENSP00000486040.1:n.2205+146T>G
ENST00000626839.2:c.2309T>G	ENSP00000486706.1:p.Ile770Ser
ENST00000629241.2:c.2133+146T>G	ENSP00000487142.1:n.2133+146T>G
ENST00000629676.2:c.1680-6057T>G	ENSP00000486194.1:n.1680-6057T>G
NM_004518.4:c.2279T>G	NP_004509.2:p.Ile760Ser
NM_172106.1:c.2309T>G	NP_742104.1:p.Ile770Ser
NM_172107.2:c.2363T>G	NP_742105.1:p.Ile788Ser
NM_172108.3:c.2270T>G	NP_742106.1:p.Ile757Ser
XM_006723787.1:c.2405T>G	XP_006723850.1:p.Ile802Ser
XM_011528807.1:c.2471T>G	XP_011527109.1:p.Ile824Ser
XM_011528808.1:c.2468T>G	XP_011527110.1:p.Ile823Ser
XM_011528809.1:c.2441T>G	XP_011527111.1:p.Ile814Ser
XM_011528810.1:c.2417T>G	XP_011527112.1:p.Ile806Ser
XM_011528811.1:c.2387T>G	XP_011527113.1:p.Ile796Ser
XM_011528812.1:c.2360T>G	XP_011527114.1:p.Ile787Ser
XM_011528813.1:c.2345T>G	XP_011527115.1:p.Ile782Ser
XM_011528814.1:c.1952T>G	XP_011527116.1:p.Ile651Ser
NM_004518.5:c.2279T>G	NP_004509.2:p.Ile760Ser
NM_172106.2:c.2309T>G	NP_742104.1:p.Ile770Ser
NM_172107.3:c.2363T>G	NP_742105.1:p.Ile788Ser
NM_172108.4:c.2270T>G	NP_742106.1:p.Ile757Ser
XM_011528810.2:c.2417T>G	XP_011527112.1:p.Ile806Ser
XM_011528811.2:c.2387T>G	XP_011527113.1:p.Ile796Ser
XM_017027841.2:c.2414T>G	XP_016883330.1:p.Ile805Ser
XM_017027842.2:c.2351T>G	XP_016883331.1:p.Ile784Ser
XM_017027843.1:c.2348T>G	XP_016883332.1:p.Ile783Ser
XM_017027844.2:c.2306T>G	XP_016883333.1:p.Ile769Ser
XM_017027845.1:c.1379T>G	XP_016883334.1:p.Ile460Ser
NM_004518.6:c.2279T>G	NP_004509.2:p.Ile760Ser
NM_172106.3:c.2309T>G	NP_742104.1:p.Ile770Ser
NM_172107.4:c.2363T>G MANE Select	NP_742105.1:p.Ile788Ser
NM_172108.5:c.2270T>G	NP_742106.1:p.Ile757Ser
NM_001382235.1:c.2417T>G	NP_001369164.1:p.Ile806Ser