Canonical Allele Identifier: CA409637157

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038195G>C (hg19) ; chr20:g.63406842G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406842G>C , CM000682.2:g.63406842G>C	GRCh38
NC_000020.10:g.62038195G>C , CM000682.1:g.62038195G>C	GRCh37
NC_000020.9:g.61508639G>C	NCBI36
NG_009004.1:g.70799C>G
NG_009004.2:g.70799C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2475C>G	ENSP00000516702.1:p.Ile825Met
ENST00000359125.7:c.2421C>G MANE Select	ENSP00000352035.2:p.Ile807Met
ENST00000637193.1:c.1818C>G	ENSP00000490734.1:p.Ile606Met
ENST00000344462.8:c.2328C>G	ENSP00000339611.4:p.Ile776Met
ENST00000357249.6:c.1989C>G	ENSP00000349789.3:p.Ile663Met
ENST00000359125.6:c.2421C>G	ENSP00000352035.2:p.Ile807Met
ENST00000360480.7:c.2337C>G	ENSP00000353668.3:p.Ile779Met
ENST00000370224.5:c.2241+204C>G	ENSP00000359244.2:n.2241+204C>G
ENST00000625514.2:c.2205+204C>G	ENSP00000486040.1:n.2205+204C>G
ENST00000626839.2:c.2367C>G	ENSP00000486706.1:p.Ile789Met
ENST00000629241.2:c.2133+204C>G	ENSP00000487142.1:n.2133+204C>G
ENST00000629676.2:c.1680-5999C>G	ENSP00000486194.1:n.1680-5999C>G
NM_004518.4:c.2337C>G	NP_004509.2:p.Ile779Met
NM_172106.1:c.2367C>G	NP_742104.1:p.Ile789Met
NM_172107.2:c.2421C>G	NP_742105.1:p.Ile807Met
NM_172108.3:c.2328C>G	NP_742106.1:p.Ile776Met
XM_006723787.1:c.2463C>G	XP_006723850.1:p.Ile821Met
XM_011528807.1:c.2529C>G	XP_011527109.1:p.Ile843Met
XM_011528808.1:c.2526C>G	XP_011527110.1:p.Ile842Met
XM_011528809.1:c.2499C>G	XP_011527111.1:p.Ile833Met
XM_011528810.1:c.2475C>G	XP_011527112.1:p.Ile825Met
XM_011528811.1:c.2445C>G	XP_011527113.1:p.Ile815Met
XM_011528812.1:c.2418C>G	XP_011527114.1:p.Ile806Met
XM_011528813.1:c.2403C>G	XP_011527115.1:p.Ile801Met
XM_011528814.1:c.2010C>G	XP_011527116.1:p.Ile670Met
NM_004518.5:c.2337C>G	NP_004509.2:p.Ile779Met
NM_172106.2:c.2367C>G	NP_742104.1:p.Ile789Met
NM_172107.3:c.2421C>G	NP_742105.1:p.Ile807Met
NM_172108.4:c.2328C>G	NP_742106.1:p.Ile776Met
XM_011528810.2:c.2475C>G	XP_011527112.1:p.Ile825Met
XM_011528811.2:c.2445C>G	XP_011527113.1:p.Ile815Met
XM_017027841.2:c.2472C>G	XP_016883330.1:p.Ile824Met
XM_017027842.2:c.2409C>G	XP_016883331.1:p.Ile803Met
XM_017027843.1:c.2406C>G	XP_016883332.1:p.Ile802Met
XM_017027844.2:c.2364C>G	XP_016883333.1:p.Ile788Met
XM_017027845.1:c.1437C>G	XP_016883334.1:p.Ile479Met
NM_004518.6:c.2337C>G	NP_004509.2:p.Ile779Met
NM_172106.3:c.2367C>G	NP_742104.1:p.Ile789Met
NM_172107.4:c.2421C>G MANE Select	NP_742105.1:p.Ile807Met
NM_172108.5:c.2328C>G	NP_742106.1:p.Ile776Met
NM_001382235.1:c.2475C>G	NP_001369164.1:p.Ile825Met