Canonical Allele Identifier: CA409639451

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038691T>A (hg19) ; chr20:g.63407338T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407338T>A , CM000682.2:g.63407338T>A	GRCh38
NC_000020.10:g.62038691T>A , CM000682.1:g.62038691T>A	GRCh37
NC_000020.9:g.61509135T>A	NCBI36
NG_009004.1:g.70303A>T
NG_009004.2:g.70303A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1979A>T	ENSP00000516702.1:p.Asn660Ile
ENST00000359125.7:c.1925A>T MANE Select	ENSP00000352035.2:p.Asn642Ile
ENST00000637193.1:c.1322A>T	ENSP00000490734.1:p.Asn441Ile
ENST00000637338.1:n.82A>T
ENST00000344462.8:c.1832A>T	ENSP00000339611.4:p.Asn611Ile
ENST00000357249.6:c.1493A>T	ENSP00000349789.3:p.Asn498Ile
ENST00000359125.6:c.1925A>T	ENSP00000352035.2:p.Asn642Ile
ENST00000360480.7:c.1841A>T	ENSP00000353668.3:p.Asn614Ile
ENST00000370224.5:c.1949A>T	ENSP00000359244.2:p.Asn650Ile
ENST00000625514.2:c.1913A>T	ENSP00000486040.1:p.Asn638Ile
ENST00000626839.2:c.1871A>T	ENSP00000486706.1:p.Asn624Ile
ENST00000629241.2:c.1841A>T	ENSP00000487142.1:p.Asn614Ile
ENST00000629676.2:c.1679+6112A>T	ENSP00000486194.1:n.1679+6112A>T
NM_004518.4:c.1841A>T	NP_004509.2:p.Asn614Ile
NM_172106.1:c.1871A>T	NP_742104.1:p.Asn624Ile
NM_172107.2:c.1925A>T	NP_742105.1:p.Asn642Ile
NM_172108.3:c.1832A>T	NP_742106.1:p.Asn611Ile
XM_006723787.1:c.1967A>T	XP_006723850.1:p.Asn656Ile
XM_011528807.1:c.2033A>T	XP_011527109.1:p.Asn678Ile
XM_011528808.1:c.2030A>T	XP_011527110.1:p.Asn677Ile
XM_011528809.1:c.2003A>T	XP_011527111.1:p.Asn668Ile
XM_011528810.1:c.1979A>T	XP_011527112.1:p.Asn660Ile
XM_011528811.1:c.1949A>T	XP_011527113.1:p.Asn650Ile
XM_011528812.1:c.1922A>T	XP_011527114.1:p.Asn641Ile
XM_011528813.1:c.1907A>T	XP_011527115.1:p.Asn636Ile
XM_011528814.1:c.1514A>T	XP_011527116.1:p.Asn505Ile
NM_004518.5:c.1841A>T	NP_004509.2:p.Asn614Ile
NM_172106.2:c.1871A>T	NP_742104.1:p.Asn624Ile
NM_172107.3:c.1925A>T	NP_742105.1:p.Asn642Ile
NM_172108.4:c.1832A>T	NP_742106.1:p.Asn611Ile
XM_011528810.2:c.1979A>T	XP_011527112.1:p.Asn660Ile
XM_011528811.2:c.1949A>T	XP_011527113.1:p.Asn650Ile
XM_017027841.2:c.1976A>T	XP_016883330.1:p.Asn659Ile
XM_017027842.2:c.1913A>T	XP_016883331.1:p.Asn638Ile
XM_017027843.1:c.1910A>T	XP_016883332.1:p.Asn637Ile
XM_017027844.2:c.1868A>T	XP_016883333.1:p.Asn623Ile
XM_017027845.1:c.941A>T	XP_016883334.1:p.Asn314Ile
NM_004518.6:c.1841A>T	NP_004509.2:p.Asn614Ile
NM_172106.3:c.1871A>T	NP_742104.1:p.Asn624Ile
NM_172107.4:c.1925A>T MANE Select	NP_742105.1:p.Asn642Ile
NM_172108.5:c.1832A>T	NP_742106.1:p.Asn611Ile
NM_001382235.1:c.1979A>T	NP_001369164.1:p.Asn660Ile