Canonical Allele Identifier: CA409638248

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038370T>G (hg19) ; chr20:g.63407017T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407017T>G , CM000682.2:g.63407017T>G	GRCh38
NC_000020.10:g.62038370T>G , CM000682.1:g.62038370T>G	GRCh37
NC_000020.9:g.61508814T>G	NCBI36
NG_009004.1:g.70624A>C
NG_009004.2:g.70624A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2300A>C	ENSP00000516702.1:p.Glu767Ala
ENST00000359125.7:c.2246A>C MANE Select	ENSP00000352035.2:p.Glu749Ala
ENST00000637193.1:c.1643A>C	ENSP00000490734.1:p.Glu548Ala
ENST00000344462.8:c.2153A>C	ENSP00000339611.4:p.Glu718Ala
ENST00000357249.6:c.1814A>C	ENSP00000349789.3:p.Glu605Ala
ENST00000359125.6:c.2246A>C	ENSP00000352035.2:p.Glu749Ala
ENST00000360480.7:c.2162A>C	ENSP00000353668.3:p.Glu721Ala
ENST00000370224.5:c.2241+29A>C	ENSP00000359244.2:n.2241+29A>C
ENST00000625514.2:c.2205+29A>C	ENSP00000486040.1:n.2205+29A>C
ENST00000626839.2:c.2192A>C	ENSP00000486706.1:p.Glu731Ala
ENST00000629241.2:c.2133+29A>C	ENSP00000487142.1:n.2133+29A>C
ENST00000629676.2:c.1680-6174A>C	ENSP00000486194.1:n.1680-6174A>C
NM_004518.4:c.2162A>C	NP_004509.2:p.Glu721Ala
NM_172106.1:c.2192A>C	NP_742104.1:p.Glu731Ala
NM_172107.2:c.2246A>C	NP_742105.1:p.Glu749Ala
NM_172108.3:c.2153A>C	NP_742106.1:p.Glu718Ala
XM_006723787.1:c.2288A>C	XP_006723850.1:p.Glu763Ala
XM_011528807.1:c.2354A>C	XP_011527109.1:p.Glu785Ala
XM_011528808.1:c.2351A>C	XP_011527110.1:p.Glu784Ala
XM_011528809.1:c.2324A>C	XP_011527111.1:p.Glu775Ala
XM_011528810.1:c.2300A>C	XP_011527112.1:p.Glu767Ala
XM_011528811.1:c.2270A>C	XP_011527113.1:p.Glu757Ala
XM_011528812.1:c.2243A>C	XP_011527114.1:p.Glu748Ala
XM_011528813.1:c.2228A>C	XP_011527115.1:p.Glu743Ala
XM_011528814.1:c.1835A>C	XP_011527116.1:p.Glu612Ala
NM_004518.5:c.2162A>C	NP_004509.2:p.Glu721Ala
NM_172106.2:c.2192A>C	NP_742104.1:p.Glu731Ala
NM_172107.3:c.2246A>C	NP_742105.1:p.Glu749Ala
NM_172108.4:c.2153A>C	NP_742106.1:p.Glu718Ala
XM_011528810.2:c.2300A>C	XP_011527112.1:p.Glu767Ala
XM_011528811.2:c.2270A>C	XP_011527113.1:p.Glu757Ala
XM_017027841.2:c.2297A>C	XP_016883330.1:p.Glu766Ala
XM_017027842.2:c.2234A>C	XP_016883331.1:p.Glu745Ala
XM_017027843.1:c.2231A>C	XP_016883332.1:p.Glu744Ala
XM_017027844.2:c.2189A>C	XP_016883333.1:p.Glu730Ala
XM_017027845.1:c.1262A>C	XP_016883334.1:p.Glu421Ala
NM_004518.6:c.2162A>C	NP_004509.2:p.Glu721Ala
NM_172106.3:c.2192A>C	NP_742104.1:p.Glu731Ala
NM_172107.4:c.2246A>C MANE Select	NP_742105.1:p.Glu749Ala
NM_172108.5:c.2153A>C	NP_742106.1:p.Glu718Ala
NM_001382235.1:c.2300A>C	NP_001369164.1:p.Glu767Ala