Canonical Allele Identifier: CA409636419

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038025T>A (hg19) ; chr20:g.63406672T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406672T>A , CM000682.2:g.63406672T>A	GRCh38
NC_000020.10:g.62038025T>A , CM000682.1:g.62038025T>A	GRCh37
NC_000020.9:g.61508469T>A	NCBI36
NG_009004.1:g.70969A>T
NG_009004.2:g.70969A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2645A>T	ENSP00000516702.1:p.Asp882Val
ENST00000359125.7:c.2591A>T MANE Select	ENSP00000352035.2:p.Asp864Val
ENST00000637193.1:c.1988A>T	ENSP00000490734.1:p.Asp663Val
ENST00000344462.8:c.2498A>T	ENSP00000339611.4:p.Asp833Val
ENST00000357249.6:c.2159A>T	ENSP00000349789.3:p.Asp720Val
ENST00000359125.6:c.2591A>T	ENSP00000352035.2:p.Asp864Val
ENST00000360480.7:c.2507A>T	ENSP00000353668.3:p.Asp836Val
ENST00000370224.5:c.2241+374A>T	ENSP00000359244.2:n.2241+374A>T
ENST00000625514.2:c.2205+374A>T	ENSP00000486040.1:n.2205+374A>T
ENST00000626839.2:c.2537A>T	ENSP00000486706.1:p.Asp846Val
ENST00000629241.2:c.2133+374A>T	ENSP00000487142.1:n.2133+374A>T
ENST00000629676.2:c.1680-5829A>T	ENSP00000486194.1:n.1680-5829A>T
NM_004518.4:c.2507A>T	NP_004509.2:p.Asp836Val
NM_172106.1:c.2537A>T	NP_742104.1:p.Asp846Val
NM_172107.2:c.2591A>T	NP_742105.1:p.Asp864Val
NM_172108.3:c.2498A>T	NP_742106.1:p.Asp833Val
XM_006723787.1:c.2633A>T	XP_006723850.1:p.Asp878Val
XM_011528807.1:c.2699A>T	XP_011527109.1:p.Asp900Val
XM_011528808.1:c.2696A>T	XP_011527110.1:p.Asp899Val
XM_011528809.1:c.2669A>T	XP_011527111.1:p.Asp890Val
XM_011528810.1:c.2645A>T	XP_011527112.1:p.Asp882Val
XM_011528811.1:c.2615A>T	XP_011527113.1:p.Asp872Val
XM_011528812.1:c.2588A>T	XP_011527114.1:p.Asp863Val
XM_011528813.1:c.2573A>T	XP_011527115.1:p.Asp858Val
XM_011528814.1:c.2180A>T	XP_011527116.1:p.Asp727Val
NM_004518.5:c.2507A>T	NP_004509.2:p.Asp836Val
NM_172106.2:c.2537A>T	NP_742104.1:p.Asp846Val
NM_172107.3:c.2591A>T	NP_742105.1:p.Asp864Val
NM_172108.4:c.2498A>T	NP_742106.1:p.Asp833Val
XM_011528810.2:c.2645A>T	XP_011527112.1:p.Asp882Val
XM_011528811.2:c.2615A>T	XP_011527113.1:p.Asp872Val
XM_017027841.2:c.2642A>T	XP_016883330.1:p.Asp881Val
XM_017027842.2:c.2579A>T	XP_016883331.1:p.Asp860Val
XM_017027843.1:c.2576A>T	XP_016883332.1:p.Asp859Val
XM_017027844.2:c.2534A>T	XP_016883333.1:p.Asp845Val
XM_017027845.1:c.1607A>T	XP_016883334.1:p.Asp536Val
NM_004518.6:c.2507A>T	NP_004509.2:p.Asp836Val
NM_172106.3:c.2537A>T	NP_742104.1:p.Asp846Val
NM_172107.4:c.2591A>T MANE Select	NP_742105.1:p.Asp864Val
NM_172108.5:c.2498A>T	NP_742106.1:p.Asp833Val
NM_001382235.1:c.2645A>T	NP_001369164.1:p.Asp882Val