Canonical Allele Identifier: CA315495

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413456T>G , CM000682.2:g.63413456T>G	GRCh38
NC_000020.10:g.62044809T>G , CM000682.1:g.62044809T>G	GRCh37
NC_000020.9:g.61515253T>G	NCBI36
NG_009004.1:g.64185A>C
NG_009004.2:g.64185A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1703A>C	ENSP00000516702.1:p.Gln568Pro
ENST00000359125.7:c.1757A>C MANE Select	ENSP00000352035.2:p.Gln586Pro
ENST00000637193.1:c.1154A>C	ENSP00000490734.1:p.Gln385Pro
ENST00000344462.8:c.1664A>C	ENSP00000339611.4:p.Gln555Pro
ENST00000357249.6:c.1325A>C	ENSP00000349789.3:p.Gln442Pro
ENST00000359125.6:c.1757A>C	ENSP00000352035.2:p.Gln586Pro
ENST00000360480.7:c.1673A>C	ENSP00000353668.3:p.Gln558Pro
ENST00000370224.5:c.1673A>C	ENSP00000359244.2:p.Gln558Pro
ENST00000625514.2:c.1637A>C	ENSP00000486040.1:p.Gln546Pro
ENST00000626839.2:c.1703A>C	ENSP00000486706.1:p.Gln568Pro
ENST00000629241.2:c.1673A>C	ENSP00000487142.1:p.Gln558Pro
ENST00000629318.1:c.365A>C	ENSP00000487384.1:p.Gln122Pro
ENST00000629676.2:c.1673A>C	ENSP00000486194.1:p.Gln558Pro
NM_004518.4:c.1673A>C	NP_004509.2:p.Gln558Pro
NM_172106.1:c.1703A>C	NP_742104.1:p.Gln568Pro
NM_172107.2:c.1757A>C	NP_742105.1:p.Gln586Pro
NM_172108.3:c.1664A>C	NP_742106.1:p.Gln555Pro
XM_006723787.1:c.1757A>C	XP_006723850.1:p.Gln586Pro
XM_011528807.1:c.1757A>C	XP_011527109.1:p.Gln586Pro
XM_011528808.1:c.1754A>C	XP_011527110.1:p.Gln585Pro
XM_011528809.1:c.1727A>C	XP_011527111.1:p.Gln576Pro
XM_011528810.1:c.1703A>C	XP_011527112.1:p.Gln568Pro
XM_011528811.1:c.1673A>C	XP_011527113.1:p.Gln558Pro
XM_011528812.1:c.1754A>C	XP_011527114.1:p.Gln585Pro
XM_011528813.1:c.1631A>C	XP_011527115.1:p.Gln544Pro
XM_011528814.1:c.1238A>C	XP_011527116.1:p.Gln413Pro
XM_011528815.1:c.1757A>C	XP_011527117.1:p.Gln586Pro
NM_004518.5:c.1673A>C	NP_004509.2:p.Gln558Pro
NM_172106.2:c.1703A>C	NP_742104.1:p.Gln568Pro
NM_172107.3:c.1757A>C	NP_742105.1:p.Gln586Pro
NM_172108.4:c.1664A>C	NP_742106.1:p.Gln555Pro
XM_011528810.2:c.1703A>C	XP_011527112.1:p.Gln568Pro
XM_011528811.2:c.1673A>C	XP_011527113.1:p.Gln558Pro
XM_017027841.2:c.1700A>C	XP_016883330.1:p.Gln567Pro
XM_017027842.2:c.1703A>C	XP_016883331.1:p.Gln568Pro
XM_017027843.1:c.1634A>C	XP_016883332.1:p.Gln545Pro
XM_017027844.2:c.1700A>C	XP_016883333.1:p.Gln567Pro
XM_017027845.1:c.665A>C	XP_016883334.1:p.Gln222Pro
NM_004518.6:c.1673A>C	NP_004509.2:p.Gln558Pro
NM_172106.3:c.1703A>C	NP_742104.1:p.Gln568Pro
NM_172107.4:c.1757A>C MANE Select	NP_742105.1:p.Gln586Pro
NM_172108.5:c.1664A>C	NP_742106.1:p.Gln555Pro
NM_001382235.1:c.1703A>C	NP_001369164.1:p.Gln568Pro