Canonical Allele Identifier: CA409639404

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038680G>A (hg19) ; chr20:g.63407327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407327G>A , CM000682.2:g.63407327G>A	GRCh38
NC_000020.10:g.62038680G>A , CM000682.1:g.62038680G>A	GRCh37
NC_000020.9:g.61509124G>A	NCBI36
NG_009004.1:g.70314C>T
NG_009004.2:g.70314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1990C>T	ENSP00000516702.1:p.Gln664Ter
ENST00000359125.7:c.1936C>T MANE Select	ENSP00000352035.2:p.Gln646Ter
ENST00000637193.1:c.1333C>T	ENSP00000490734.1:p.Gln445Ter
ENST00000637338.1:n.93C>T
ENST00000344462.8:c.1843C>T	ENSP00000339611.4:p.Gln615Ter
ENST00000357249.6:c.1504C>T	ENSP00000349789.3:p.Gln502Ter
ENST00000359125.6:c.1936C>T	ENSP00000352035.2:p.Gln646Ter
ENST00000360480.7:c.1852C>T	ENSP00000353668.3:p.Gln618Ter
ENST00000370224.5:c.1960C>T	ENSP00000359244.2:p.Gln654Ter
ENST00000625514.2:c.1924C>T	ENSP00000486040.1:p.Gln642Ter
ENST00000626839.2:c.1882C>T	ENSP00000486706.1:p.Gln628Ter
ENST00000629241.2:c.1852C>T	ENSP00000487142.1:p.Gln618Ter
ENST00000629676.2:c.1679+6123C>T	ENSP00000486194.1:n.1679+6123C>T
NM_004518.4:c.1852C>T	NP_004509.2:p.Gln618Ter
NM_172106.1:c.1882C>T	NP_742104.1:p.Gln628Ter
NM_172107.2:c.1936C>T	NP_742105.1:p.Gln646Ter
NM_172108.3:c.1843C>T	NP_742106.1:p.Gln615Ter
XM_006723787.1:c.1978C>T	XP_006723850.1:p.Gln660Ter
XM_011528807.1:c.2044C>T	XP_011527109.1:p.Gln682Ter
XM_011528808.1:c.2041C>T	XP_011527110.1:p.Gln681Ter
XM_011528809.1:c.2014C>T	XP_011527111.1:p.Gln672Ter
XM_011528810.1:c.1990C>T	XP_011527112.1:p.Gln664Ter
XM_011528811.1:c.1960C>T	XP_011527113.1:p.Gln654Ter
XM_011528812.1:c.1933C>T	XP_011527114.1:p.Gln645Ter
XM_011528813.1:c.1918C>T	XP_011527115.1:p.Gln640Ter
XM_011528814.1:c.1525C>T	XP_011527116.1:p.Gln509Ter
NM_004518.5:c.1852C>T	NP_004509.2:p.Gln618Ter
NM_172106.2:c.1882C>T	NP_742104.1:p.Gln628Ter
NM_172107.3:c.1936C>T	NP_742105.1:p.Gln646Ter
NM_172108.4:c.1843C>T	NP_742106.1:p.Gln615Ter
XM_011528810.2:c.1990C>T	XP_011527112.1:p.Gln664Ter
XM_011528811.2:c.1960C>T	XP_011527113.1:p.Gln654Ter
XM_017027841.2:c.1987C>T	XP_016883330.1:p.Gln663Ter
XM_017027842.2:c.1924C>T	XP_016883331.1:p.Gln642Ter
XM_017027843.1:c.1921C>T	XP_016883332.1:p.Gln641Ter
XM_017027844.2:c.1879C>T	XP_016883333.1:p.Gln627Ter
XM_017027845.1:c.952C>T	XP_016883334.1:p.Gln318Ter
NM_004518.6:c.1852C>T	NP_004509.2:p.Gln618Ter
NM_172106.3:c.1882C>T	NP_742104.1:p.Gln628Ter
NM_172107.4:c.1936C>T MANE Select	NP_742105.1:p.Gln646Ter
NM_172108.5:c.1843C>T	NP_742106.1:p.Gln615Ter
NM_001382235.1:c.1990C>T	NP_001369164.1:p.Gln664Ter