Canonical Allele Identifier: CA511339529

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1601543813
• MyVariant Identifiers: chr20:g.62038480A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407127A>G , CM000682.2:g.63407127A>G	GRCh38
NC_000020.10:g.62038480A>G , CM000682.1:g.62038480A>G	GRCh37
NC_000020.9:g.61508924A>G	NCBI36
NG_009004.1:g.70514T>C
NG_009004.2:g.70514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2190T>C	ENSP00000516702.1:p.Cys730=
ENST00000359125.7:c.2136T>C MANE Select	ENSP00000352035.2:p.Cys712=
ENST00000637193.1:c.1533T>C	ENSP00000490734.1:p.Cys511=
ENST00000344462.8:c.2043T>C	ENSP00000339611.4:p.Cys681=
ENST00000357249.6:c.1704T>C	ENSP00000349789.3:p.Cys568=
ENST00000359125.6:c.2136T>C	ENSP00000352035.2:p.Cys712=
ENST00000360480.7:c.2052T>C	ENSP00000353668.3:p.Cys684=
ENST00000370224.5:c.2160T>C	ENSP00000359244.2:p.Cys720=
ENST00000625514.2:c.2124T>C	ENSP00000486040.1:p.Cys708=
ENST00000626839.2:c.2082T>C	ENSP00000486706.1:p.Cys694=
ENST00000629241.2:c.2052T>C	ENSP00000487142.1:p.Cys684=
ENST00000629676.2:c.1680-6284T>C	ENSP00000486194.1:n.1680-6284T>C
NM_004518.4:c.2052T>C	NP_004509.2:p.Cys684=
NM_172106.1:c.2082T>C	NP_742104.1:p.Cys694=
NM_172107.2:c.2136T>C	NP_742105.1:p.Cys712=
NM_172108.3:c.2043T>C	NP_742106.1:p.Cys681=
XM_006723787.1:c.2178T>C	XP_006723850.1:p.Cys726=
XM_011528807.1:c.2244T>C	XP_011527109.1:p.Cys748=
XM_011528808.1:c.2241T>C	XP_011527110.1:p.Cys747=
XM_011528809.1:c.2214T>C	XP_011527111.1:p.Cys738=
XM_011528810.1:c.2190T>C	XP_011527112.1:p.Cys730=
XM_011528811.1:c.2160T>C	XP_011527113.1:p.Cys720=
XM_011528812.1:c.2133T>C	XP_011527114.1:p.Cys711=
XM_011528813.1:c.2118T>C	XP_011527115.1:p.Cys706=
XM_011528814.1:c.1725T>C	XP_011527116.1:p.Cys575=
NM_004518.5:c.2052T>C	NP_004509.2:p.Cys684=
NM_172106.2:c.2082T>C	NP_742104.1:p.Cys694=
NM_172107.3:c.2136T>C	NP_742105.1:p.Cys712=
NM_172108.4:c.2043T>C	NP_742106.1:p.Cys681=
XM_011528810.2:c.2190T>C	XP_011527112.1:p.Cys730=
XM_011528811.2:c.2160T>C	XP_011527113.1:p.Cys720=
XM_017027841.2:c.2187T>C	XP_016883330.1:p.Cys729=
XM_017027842.2:c.2124T>C	XP_016883331.1:p.Cys708=
XM_017027843.1:c.2121T>C	XP_016883332.1:p.Cys707=
XM_017027844.2:c.2079T>C	XP_016883333.1:p.Cys693=
XM_017027845.1:c.1152T>C	XP_016883334.1:p.Cys384=
NM_004518.6:c.2052T>C	NP_004509.2:p.Cys684=
NM_172106.3:c.2082T>C	NP_742104.1:p.Cys694=
NM_172107.4:c.2136T>C MANE Select	NP_742105.1:p.Cys712=
NM_172108.5:c.2043T>C	NP_742106.1:p.Cys681=
NM_001382235.1:c.2190T>C	NP_001369164.1:p.Cys730=