Canonical Allele Identifier: CA409639463

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038695C>A (hg19) ; chr20:g.63407342C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407342C>A , CM000682.2:g.63407342C>A	GRCh38
NC_000020.10:g.62038695C>A , CM000682.1:g.62038695C>A	GRCh37
NC_000020.9:g.61509139C>A	NCBI36
NG_009004.1:g.70299G>T
NG_009004.2:g.70299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1975G>T	ENSP00000516702.1:p.Val659Leu
ENST00000359125.7:c.1921G>T MANE Select	ENSP00000352035.2:p.Val641Leu
ENST00000637193.1:c.1318G>T	ENSP00000490734.1:p.Val440Leu
ENST00000637338.1:n.78G>T
ENST00000344462.8:c.1828G>T	ENSP00000339611.4:p.Val610Leu
ENST00000357249.6:c.1489G>T	ENSP00000349789.3:p.Val497Leu
ENST00000359125.6:c.1921G>T	ENSP00000352035.2:p.Val641Leu
ENST00000360480.7:c.1837G>T	ENSP00000353668.3:p.Val613Leu
ENST00000370224.5:c.1945G>T	ENSP00000359244.2:p.Val649Leu
ENST00000625514.2:c.1909G>T	ENSP00000486040.1:p.Val637Leu
ENST00000626839.2:c.1867G>T	ENSP00000486706.1:p.Val623Leu
ENST00000629241.2:c.1837G>T	ENSP00000487142.1:p.Val613Leu
ENST00000629676.2:c.1679+6108G>T	ENSP00000486194.1:n.1679+6108G>T
NM_004518.4:c.1837G>T	NP_004509.2:p.Val613Leu
NM_172106.1:c.1867G>T	NP_742104.1:p.Val623Leu
NM_172107.2:c.1921G>T	NP_742105.1:p.Val641Leu
NM_172108.3:c.1828G>T	NP_742106.1:p.Val610Leu
XM_006723787.1:c.1963G>T	XP_006723850.1:p.Val655Leu
XM_011528807.1:c.2029G>T	XP_011527109.1:p.Val677Leu
XM_011528808.1:c.2026G>T	XP_011527110.1:p.Val676Leu
XM_011528809.1:c.1999G>T	XP_011527111.1:p.Val667Leu
XM_011528810.1:c.1975G>T	XP_011527112.1:p.Val659Leu
XM_011528811.1:c.1945G>T	XP_011527113.1:p.Val649Leu
XM_011528812.1:c.1918G>T	XP_011527114.1:p.Val640Leu
XM_011528813.1:c.1903G>T	XP_011527115.1:p.Val635Leu
XM_011528814.1:c.1510G>T	XP_011527116.1:p.Val504Leu
NM_004518.5:c.1837G>T	NP_004509.2:p.Val613Leu
NM_172106.2:c.1867G>T	NP_742104.1:p.Val623Leu
NM_172107.3:c.1921G>T	NP_742105.1:p.Val641Leu
NM_172108.4:c.1828G>T	NP_742106.1:p.Val610Leu
XM_011528810.2:c.1975G>T	XP_011527112.1:p.Val659Leu
XM_011528811.2:c.1945G>T	XP_011527113.1:p.Val649Leu
XM_017027841.2:c.1972G>T	XP_016883330.1:p.Val658Leu
XM_017027842.2:c.1909G>T	XP_016883331.1:p.Val637Leu
XM_017027843.1:c.1906G>T	XP_016883332.1:p.Val636Leu
XM_017027844.2:c.1864G>T	XP_016883333.1:p.Val622Leu
XM_017027845.1:c.937G>T	XP_016883334.1:p.Val313Leu
NM_004518.6:c.1837G>T	NP_004509.2:p.Val613Leu
NM_172106.3:c.1867G>T	NP_742104.1:p.Val623Leu
NM_172107.4:c.1921G>T MANE Select	NP_742105.1:p.Val641Leu
NM_172108.5:c.1828G>T	NP_742106.1:p.Val610Leu
NM_001382235.1:c.1975G>T	NP_001369164.1:p.Val659Leu