Canonical Allele Identifier: CA920253008

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1601544789

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407265dup , CM000682.2:g.63407265dup	GRCh38
NC_000020.10:g.62038618dup , CM000682.1:g.62038618dup	GRCh37
NC_000020.9:g.61509062dup	NCBI36
NG_009004.1:g.70377dup
NG_009004.2:g.70377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2053dup	ENSP00000516702.1:p.Ala685GlyfsTer?
ENST00000359125.7:c.1999dup MANE Select	ENSP00000352035.2:p.Ala667GlyfsTer?
ENST00000637193.1:c.1396dup	ENSP00000490734.1:p.Ala466GlyfsTer?
ENST00000344462.8:c.1906dup	ENSP00000339611.4:p.Ala636GlyfsTer?
ENST00000357249.6:c.1567dup	ENSP00000349789.3:p.Ala523GlyfsTer?
ENST00000359125.6:c.1999dup	ENSP00000352035.2:p.Ala667GlyfsTer?
ENST00000360480.7:c.1915dup	ENSP00000353668.3:p.Ala639GlyfsTer?
ENST00000370224.5:c.2023dup	ENSP00000359244.2:p.Ala675GlyfsTer?
ENST00000625514.2:c.1987dup	ENSP00000486040.1:p.Ala663GlyfsTer?
ENST00000626839.2:c.1945dup	ENSP00000486706.1:p.Ala649GlyfsTer?
ENST00000629241.2:c.1915dup	ENSP00000487142.1:p.Ala639GlyfsTer?
ENST00000629676.2:c.1679+6186dup	ENSP00000486194.1:n.1679+6186dup
NM_004518.4:c.1915dup	NP_004509.2:p.Ala639GlyfsTer?
NM_172106.1:c.1945dup	NP_742104.1:p.Ala649GlyfsTer?
NM_172107.2:c.1999dup	NP_742105.1:p.Ala667GlyfsTer?
NM_172108.3:c.1906dup	NP_742106.1:p.Ala636GlyfsTer?
XM_006723787.1:c.2041dup	XP_006723850.1:p.Ala681GlyfsTer?
XM_011528807.1:c.2107dup	XP_011527109.1:p.Ala703GlyfsTer?
XM_011528808.1:c.2104dup	XP_011527110.1:p.Ala702GlyfsTer?
XM_011528809.1:c.2077dup	XP_011527111.1:p.Ala693GlyfsTer?
XM_011528810.1:c.2053dup	XP_011527112.1:p.Ala685GlyfsTer?
XM_011528811.1:c.2023dup	XP_011527113.1:p.Ala675GlyfsTer?
XM_011528812.1:c.1996dup	XP_011527114.1:p.Ala666GlyfsTer?
XM_011528813.1:c.1981dup	XP_011527115.1:p.Ala661GlyfsTer?
XM_011528814.1:c.1588dup	XP_011527116.1:p.Ala530GlyfsTer?
NM_004518.5:c.1915dup	NP_004509.2:p.Ala639GlyfsTer?
NM_172106.2:c.1945dup	NP_742104.1:p.Ala649GlyfsTer?
NM_172107.3:c.1999dup	NP_742105.1:p.Ala667GlyfsTer?
NM_172108.4:c.1906dup	NP_742106.1:p.Ala636GlyfsTer?
XM_011528810.2:c.2053dup	XP_011527112.1:p.Ala685GlyfsTer?
XM_011528811.2:c.2023dup	XP_011527113.1:p.Ala675GlyfsTer?
XM_017027841.2:c.2050dup	XP_016883330.1:p.Ala684GlyfsTer?
XM_017027842.2:c.1987dup	XP_016883331.1:p.Ala663GlyfsTer?
XM_017027843.1:c.1984dup	XP_016883332.1:p.Ala662GlyfsTer?
XM_017027844.2:c.1942dup	XP_016883333.1:p.Ala648GlyfsTer?
XM_017027845.1:c.1015dup	XP_016883334.1:p.Ala339GlyfsTer?
NM_004518.6:c.1915dup	NP_004509.2:p.Ala639GlyfsTer?
NM_172106.3:c.1945dup	NP_742104.1:p.Ala649GlyfsTer?
NM_172107.4:c.1999dup MANE Select	NP_742105.1:p.Ala667GlyfsTer?
NM_172108.5:c.1906dup	NP_742106.1:p.Ala636GlyfsTer?
NM_001382235.1:c.2053dup	NP_001369164.1:p.Ala685GlyfsTer?