Canonical Allele Identifier: CA409639490

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1969T>C	ENSP00000516702.1:p.Phe657Leu
ENST00000359125.7:c.1915T>C MANE Select	ENSP00000352035.2:p.Phe639Leu
ENST00000637193.1:c.1312T>C	ENSP00000490734.1:p.Phe438Leu
ENST00000637338.1:n.72T>C
ENST00000344462.8:c.1822T>C	ENSP00000339611.4:p.Phe608Leu
ENST00000357249.6:c.1483T>C	ENSP00000349789.3:p.Phe495Leu
ENST00000359125.6:c.1915T>C	ENSP00000352035.2:p.Phe639Leu
ENST00000360480.7:c.1831T>C	ENSP00000353668.3:p.Phe611Leu
ENST00000370224.5:c.1939T>C	ENSP00000359244.2:p.Phe647Leu
ENST00000625514.2:c.1903T>C	ENSP00000486040.1:p.Phe635Leu
ENST00000626839.2:c.1861T>C	ENSP00000486706.1:p.Phe621Leu
ENST00000629241.2:c.1831T>C	ENSP00000487142.1:p.Phe611Leu
ENST00000629676.2:c.1679+6102T>C	ENSP00000486194.1:n.1679+6102T>C
NM_004518.4:c.1831T>C	NP_004509.2:p.Phe611Leu
NM_172106.1:c.1861T>C	NP_742104.1:p.Phe621Leu
NM_172107.2:c.1915T>C	NP_742105.1:p.Phe639Leu
NM_172108.3:c.1822T>C	NP_742106.1:p.Phe608Leu
XM_006723787.1:c.1957T>C	XP_006723850.1:p.Phe653Leu
XM_011528807.1:c.2023T>C	XP_011527109.1:p.Phe675Leu
XM_011528808.1:c.2020T>C	XP_011527110.1:p.Phe674Leu
XM_011528809.1:c.1993T>C	XP_011527111.1:p.Phe665Leu
XM_011528810.1:c.1969T>C	XP_011527112.1:p.Phe657Leu
XM_011528811.1:c.1939T>C	XP_011527113.1:p.Phe647Leu
XM_011528812.1:c.1912T>C	XP_011527114.1:p.Phe638Leu
XM_011528813.1:c.1897T>C	XP_011527115.1:p.Phe633Leu
XM_011528814.1:c.1504T>C	XP_011527116.1:p.Phe502Leu
NM_004518.5:c.1831T>C	NP_004509.2:p.Phe611Leu
NM_172106.2:c.1861T>C	NP_742104.1:p.Phe621Leu
NM_172107.3:c.1915T>C	NP_742105.1:p.Phe639Leu
NM_172108.4:c.1822T>C	NP_742106.1:p.Phe608Leu
XM_011528810.2:c.1969T>C	XP_011527112.1:p.Phe657Leu
XM_011528811.2:c.1939T>C	XP_011527113.1:p.Phe647Leu
XM_017027841.2:c.1966T>C	XP_016883330.1:p.Phe656Leu
XM_017027842.2:c.1903T>C	XP_016883331.1:p.Phe635Leu
XM_017027843.1:c.1900T>C	XP_016883332.1:p.Phe634Leu
XM_017027844.2:c.1858T>C	XP_016883333.1:p.Phe620Leu
XM_017027845.1:c.931T>C	XP_016883334.1:p.Phe311Leu
NM_004518.6:c.1831T>C	NP_004509.2:p.Phe611Leu
NM_172106.3:c.1861T>C	NP_742104.1:p.Phe621Leu
NM_172107.4:c.1915T>C MANE Select	NP_742105.1:p.Phe639Leu
NM_172108.5:c.1822T>C	NP_742106.1:p.Phe608Leu
NM_001382235.1:c.1969T>C	NP_001369164.1:p.Phe657Leu