Canonical Allele Identifier: CA409638080

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2330A>C	ENSP00000516702.1:p.Asn777Thr
ENST00000359125.7:c.2276A>C MANE Select	ENSP00000352035.2:p.Asn759Thr
ENST00000637193.1:c.1673A>C	ENSP00000490734.1:p.Asn558Thr
ENST00000344462.8:c.2183A>C	ENSP00000339611.4:p.Asn728Thr
ENST00000357249.6:c.1844A>C	ENSP00000349789.3:p.Asn615Thr
ENST00000359125.6:c.2276A>C	ENSP00000352035.2:p.Asn759Thr
ENST00000360480.7:c.2192A>C	ENSP00000353668.3:p.Asn731Thr
ENST00000370224.5:c.2241+59A>C	ENSP00000359244.2:n.2241+59A>C
ENST00000625514.2:c.2205+59A>C	ENSP00000486040.1:n.2205+59A>C
ENST00000626839.2:c.2222A>C	ENSP00000486706.1:p.Asn741Thr
ENST00000629241.2:c.2133+59A>C	ENSP00000487142.1:n.2133+59A>C
ENST00000629676.2:c.1680-6144A>C	ENSP00000486194.1:n.1680-6144A>C
NM_004518.4:c.2192A>C	NP_004509.2:p.Asn731Thr
NM_172106.1:c.2222A>C	NP_742104.1:p.Asn741Thr
NM_172107.2:c.2276A>C	NP_742105.1:p.Asn759Thr
NM_172108.3:c.2183A>C	NP_742106.1:p.Asn728Thr
XM_006723787.1:c.2318A>C	XP_006723850.1:p.Asn773Thr
XM_011528807.1:c.2384A>C	XP_011527109.1:p.Asn795Thr
XM_011528808.1:c.2381A>C	XP_011527110.1:p.Asn794Thr
XM_011528809.1:c.2354A>C	XP_011527111.1:p.Asn785Thr
XM_011528810.1:c.2330A>C	XP_011527112.1:p.Asn777Thr
XM_011528811.1:c.2300A>C	XP_011527113.1:p.Asn767Thr
XM_011528812.1:c.2273A>C	XP_011527114.1:p.Asn758Thr
XM_011528813.1:c.2258A>C	XP_011527115.1:p.Asn753Thr
XM_011528814.1:c.1865A>C	XP_011527116.1:p.Asn622Thr
NM_004518.5:c.2192A>C	NP_004509.2:p.Asn731Thr
NM_172106.2:c.2222A>C	NP_742104.1:p.Asn741Thr
NM_172107.3:c.2276A>C	NP_742105.1:p.Asn759Thr
NM_172108.4:c.2183A>C	NP_742106.1:p.Asn728Thr
XM_011528810.2:c.2330A>C	XP_011527112.1:p.Asn777Thr
XM_011528811.2:c.2300A>C	XP_011527113.1:p.Asn767Thr
XM_017027841.2:c.2327A>C	XP_016883330.1:p.Asn776Thr
XM_017027842.2:c.2264A>C	XP_016883331.1:p.Asn755Thr
XM_017027843.1:c.2261A>C	XP_016883332.1:p.Asn754Thr
XM_017027844.2:c.2219A>C	XP_016883333.1:p.Asn740Thr
XM_017027845.1:c.1292A>C	XP_016883334.1:p.Asn431Thr
NM_004518.6:c.2192A>C	NP_004509.2:p.Asn731Thr
NM_172106.3:c.2222A>C	NP_742104.1:p.Asn741Thr
NM_172107.4:c.2276A>C MANE Select	NP_742105.1:p.Asn759Thr
NM_172108.5:c.2183A>C	NP_742106.1:p.Asn728Thr
NM_001382235.1:c.2330A>C	NP_001369164.1:p.Asn777Thr