Canonical Allele Identifier: CA409639488

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038701A>C (hg19) ; chr20:g.63407348A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407348A>C , CM000682.2:g.63407348A>C	GRCh38
NC_000020.10:g.62038701A>C , CM000682.1:g.62038701A>C	GRCh37
NC_000020.9:g.61509145A>C	NCBI36
NG_009004.1:g.70293T>G
NG_009004.2:g.70293T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1969T>G	ENSP00000516702.1:p.Phe657Val
ENST00000359125.7:c.1915T>G MANE Select	ENSP00000352035.2:p.Phe639Val
ENST00000637193.1:c.1312T>G	ENSP00000490734.1:p.Phe438Val
ENST00000637338.1:n.72T>G
ENST00000344462.8:c.1822T>G	ENSP00000339611.4:p.Phe608Val
ENST00000357249.6:c.1483T>G	ENSP00000349789.3:p.Phe495Val
ENST00000359125.6:c.1915T>G	ENSP00000352035.2:p.Phe639Val
ENST00000360480.7:c.1831T>G	ENSP00000353668.3:p.Phe611Val
ENST00000370224.5:c.1939T>G	ENSP00000359244.2:p.Phe647Val
ENST00000625514.2:c.1903T>G	ENSP00000486040.1:p.Phe635Val
ENST00000626839.2:c.1861T>G	ENSP00000486706.1:p.Phe621Val
ENST00000629241.2:c.1831T>G	ENSP00000487142.1:p.Phe611Val
ENST00000629676.2:c.1679+6102T>G	ENSP00000486194.1:n.1679+6102T>G
NM_004518.4:c.1831T>G	NP_004509.2:p.Phe611Val
NM_172106.1:c.1861T>G	NP_742104.1:p.Phe621Val
NM_172107.2:c.1915T>G	NP_742105.1:p.Phe639Val
NM_172108.3:c.1822T>G	NP_742106.1:p.Phe608Val
XM_006723787.1:c.1957T>G	XP_006723850.1:p.Phe653Val
XM_011528807.1:c.2023T>G	XP_011527109.1:p.Phe675Val
XM_011528808.1:c.2020T>G	XP_011527110.1:p.Phe674Val
XM_011528809.1:c.1993T>G	XP_011527111.1:p.Phe665Val
XM_011528810.1:c.1969T>G	XP_011527112.1:p.Phe657Val
XM_011528811.1:c.1939T>G	XP_011527113.1:p.Phe647Val
XM_011528812.1:c.1912T>G	XP_011527114.1:p.Phe638Val
XM_011528813.1:c.1897T>G	XP_011527115.1:p.Phe633Val
XM_011528814.1:c.1504T>G	XP_011527116.1:p.Phe502Val
NM_004518.5:c.1831T>G	NP_004509.2:p.Phe611Val
NM_172106.2:c.1861T>G	NP_742104.1:p.Phe621Val
NM_172107.3:c.1915T>G	NP_742105.1:p.Phe639Val
NM_172108.4:c.1822T>G	NP_742106.1:p.Phe608Val
XM_011528810.2:c.1969T>G	XP_011527112.1:p.Phe657Val
XM_011528811.2:c.1939T>G	XP_011527113.1:p.Phe647Val
XM_017027841.2:c.1966T>G	XP_016883330.1:p.Phe656Val
XM_017027842.2:c.1903T>G	XP_016883331.1:p.Phe635Val
XM_017027843.1:c.1900T>G	XP_016883332.1:p.Phe634Val
XM_017027844.2:c.1858T>G	XP_016883333.1:p.Phe620Val
XM_017027845.1:c.931T>G	XP_016883334.1:p.Phe311Val
NM_004518.6:c.1831T>G	NP_004509.2:p.Phe611Val
NM_172106.3:c.1861T>G	NP_742104.1:p.Phe621Val
NM_172107.4:c.1915T>G MANE Select	NP_742105.1:p.Phe639Val
NM_172108.5:c.1822T>G	NP_742106.1:p.Phe608Val
NM_001382235.1:c.1969T>G	NP_001369164.1:p.Phe657Val