Canonical Allele Identifier: CA409638075

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038340T>A (hg19) ; chr20:g.63406987T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406987T>A , CM000682.2:g.63406987T>A	GRCh38
NC_000020.10:g.62038340T>A , CM000682.1:g.62038340T>A	GRCh37
NC_000020.9:g.61508784T>A	NCBI36
NG_009004.1:g.70654A>T
NG_009004.2:g.70654A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2330A>T	ENSP00000516702.1:p.Asn777Ile
ENST00000359125.7:c.2276A>T MANE Select	ENSP00000352035.2:p.Asn759Ile
ENST00000637193.1:c.1673A>T	ENSP00000490734.1:p.Asn558Ile
ENST00000344462.8:c.2183A>T	ENSP00000339611.4:p.Asn728Ile
ENST00000357249.6:c.1844A>T	ENSP00000349789.3:p.Asn615Ile
ENST00000359125.6:c.2276A>T	ENSP00000352035.2:p.Asn759Ile
ENST00000360480.7:c.2192A>T	ENSP00000353668.3:p.Asn731Ile
ENST00000370224.5:c.2241+59A>T	ENSP00000359244.2:n.2241+59A>T
ENST00000625514.2:c.2205+59A>T	ENSP00000486040.1:n.2205+59A>T
ENST00000626839.2:c.2222A>T	ENSP00000486706.1:p.Asn741Ile
ENST00000629241.2:c.2133+59A>T	ENSP00000487142.1:n.2133+59A>T
ENST00000629676.2:c.1680-6144A>T	ENSP00000486194.1:n.1680-6144A>T
NM_004518.4:c.2192A>T	NP_004509.2:p.Asn731Ile
NM_172106.1:c.2222A>T	NP_742104.1:p.Asn741Ile
NM_172107.2:c.2276A>T	NP_742105.1:p.Asn759Ile
NM_172108.3:c.2183A>T	NP_742106.1:p.Asn728Ile
XM_006723787.1:c.2318A>T	XP_006723850.1:p.Asn773Ile
XM_011528807.1:c.2384A>T	XP_011527109.1:p.Asn795Ile
XM_011528808.1:c.2381A>T	XP_011527110.1:p.Asn794Ile
XM_011528809.1:c.2354A>T	XP_011527111.1:p.Asn785Ile
XM_011528810.1:c.2330A>T	XP_011527112.1:p.Asn777Ile
XM_011528811.1:c.2300A>T	XP_011527113.1:p.Asn767Ile
XM_011528812.1:c.2273A>T	XP_011527114.1:p.Asn758Ile
XM_011528813.1:c.2258A>T	XP_011527115.1:p.Asn753Ile
XM_011528814.1:c.1865A>T	XP_011527116.1:p.Asn622Ile
NM_004518.5:c.2192A>T	NP_004509.2:p.Asn731Ile
NM_172106.2:c.2222A>T	NP_742104.1:p.Asn741Ile
NM_172107.3:c.2276A>T	NP_742105.1:p.Asn759Ile
NM_172108.4:c.2183A>T	NP_742106.1:p.Asn728Ile
XM_011528810.2:c.2330A>T	XP_011527112.1:p.Asn777Ile
XM_011528811.2:c.2300A>T	XP_011527113.1:p.Asn767Ile
XM_017027841.2:c.2327A>T	XP_016883330.1:p.Asn776Ile
XM_017027842.2:c.2264A>T	XP_016883331.1:p.Asn755Ile
XM_017027843.1:c.2261A>T	XP_016883332.1:p.Asn754Ile
XM_017027844.2:c.2219A>T	XP_016883333.1:p.Asn740Ile
XM_017027845.1:c.1292A>T	XP_016883334.1:p.Asn431Ile
NM_004518.6:c.2192A>T	NP_004509.2:p.Asn731Ile
NM_172106.3:c.2222A>T	NP_742104.1:p.Asn741Ile
NM_172107.4:c.2276A>T MANE Select	NP_742105.1:p.Asn759Ile
NM_172108.5:c.2183A>T	NP_742106.1:p.Asn728Ile
NM_001382235.1:c.2330A>T	NP_001369164.1:p.Asn777Ile