Canonical Allele Identifier: CA409638024

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038332T>C (hg19) ; chr20:g.63406979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406979T>C , CM000682.2:g.63406979T>C	GRCh38
NC_000020.10:g.62038332T>C , CM000682.1:g.62038332T>C	GRCh37
NC_000020.9:g.61508776T>C	NCBI36
NG_009004.1:g.70662A>G
NG_009004.2:g.70662A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2338A>G	ENSP00000516702.1:p.Ser780Gly
ENST00000359125.7:c.2284A>G MANE Select	ENSP00000352035.2:p.Ser762Gly
ENST00000637193.1:c.1681A>G	ENSP00000490734.1:p.Ser561Gly
ENST00000344462.8:c.2191A>G	ENSP00000339611.4:p.Ser731Gly
ENST00000357249.6:c.1852A>G	ENSP00000349789.3:p.Ser618Gly
ENST00000359125.6:c.2284A>G	ENSP00000352035.2:p.Ser762Gly
ENST00000360480.7:c.2200A>G	ENSP00000353668.3:p.Ser734Gly
ENST00000370224.5:c.2241+67A>G	ENSP00000359244.2:n.2241+67A>G
ENST00000625514.2:c.2205+67A>G	ENSP00000486040.1:n.2205+67A>G
ENST00000626839.2:c.2230A>G	ENSP00000486706.1:p.Ser744Gly
ENST00000629241.2:c.2133+67A>G	ENSP00000487142.1:n.2133+67A>G
ENST00000629676.2:c.1680-6136A>G	ENSP00000486194.1:n.1680-6136A>G
NM_004518.4:c.2200A>G	NP_004509.2:p.Ser734Gly
NM_172106.1:c.2230A>G	NP_742104.1:p.Ser744Gly
NM_172107.2:c.2284A>G	NP_742105.1:p.Ser762Gly
NM_172108.3:c.2191A>G	NP_742106.1:p.Ser731Gly
XM_006723787.1:c.2326A>G	XP_006723850.1:p.Ser776Gly
XM_011528807.1:c.2392A>G	XP_011527109.1:p.Ser798Gly
XM_011528808.1:c.2389A>G	XP_011527110.1:p.Ser797Gly
XM_011528809.1:c.2362A>G	XP_011527111.1:p.Ser788Gly
XM_011528810.1:c.2338A>G	XP_011527112.1:p.Ser780Gly
XM_011528811.1:c.2308A>G	XP_011527113.1:p.Ser770Gly
XM_011528812.1:c.2281A>G	XP_011527114.1:p.Ser761Gly
XM_011528813.1:c.2266A>G	XP_011527115.1:p.Ser756Gly
XM_011528814.1:c.1873A>G	XP_011527116.1:p.Ser625Gly
NM_004518.5:c.2200A>G	NP_004509.2:p.Ser734Gly
NM_172106.2:c.2230A>G	NP_742104.1:p.Ser744Gly
NM_172107.3:c.2284A>G	NP_742105.1:p.Ser762Gly
NM_172108.4:c.2191A>G	NP_742106.1:p.Ser731Gly
XM_011528810.2:c.2338A>G	XP_011527112.1:p.Ser780Gly
XM_011528811.2:c.2308A>G	XP_011527113.1:p.Ser770Gly
XM_017027841.2:c.2335A>G	XP_016883330.1:p.Ser779Gly
XM_017027842.2:c.2272A>G	XP_016883331.1:p.Ser758Gly
XM_017027843.1:c.2269A>G	XP_016883332.1:p.Ser757Gly
XM_017027844.2:c.2227A>G	XP_016883333.1:p.Ser743Gly
XM_017027845.1:c.1300A>G	XP_016883334.1:p.Ser434Gly
NM_004518.6:c.2200A>G	NP_004509.2:p.Ser734Gly
NM_172106.3:c.2230A>G	NP_742104.1:p.Ser744Gly
NM_172107.4:c.2284A>G MANE Select	NP_742105.1:p.Ser762Gly
NM_172108.5:c.2191A>G	NP_742106.1:p.Ser731Gly
NM_001382235.1:c.2338A>G	NP_001369164.1:p.Ser780Gly