Canonical Allele Identifier: CA409638956

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038497C>G (hg19) ; chr20:g.63407144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407144C>G , CM000682.2:g.63407144C>G	GRCh38
NC_000020.10:g.62038497C>G , CM000682.1:g.62038497C>G	GRCh37
NC_000020.9:g.61508941C>G	NCBI36
NG_009004.1:g.70497G>C
NG_009004.2:g.70497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2173G>C	ENSP00000516702.1:p.Ala725Pro
ENST00000359125.7:c.2119G>C MANE Select	ENSP00000352035.2:p.Ala707Pro
ENST00000637193.1:c.1516G>C	ENSP00000490734.1:p.Ala506Pro
ENST00000344462.8:c.2026G>C	ENSP00000339611.4:p.Ala676Pro
ENST00000357249.6:c.1687G>C	ENSP00000349789.3:p.Ala563Pro
ENST00000359125.6:c.2119G>C	ENSP00000352035.2:p.Ala707Pro
ENST00000360480.7:c.2035G>C	ENSP00000353668.3:p.Ala679Pro
ENST00000370224.5:c.2143G>C	ENSP00000359244.2:p.Ala715Pro
ENST00000625514.2:c.2107G>C	ENSP00000486040.1:p.Ala703Pro
ENST00000626839.2:c.2065G>C	ENSP00000486706.1:p.Ala689Pro
ENST00000629241.2:c.2035G>C	ENSP00000487142.1:p.Ala679Pro
ENST00000629676.2:c.1680-6301G>C	ENSP00000486194.1:n.1680-6301G>C
NM_004518.4:c.2035G>C	NP_004509.2:p.Ala679Pro
NM_172106.1:c.2065G>C	NP_742104.1:p.Ala689Pro
NM_172107.2:c.2119G>C	NP_742105.1:p.Ala707Pro
NM_172108.3:c.2026G>C	NP_742106.1:p.Ala676Pro
XM_006723787.1:c.2161G>C	XP_006723850.1:p.Ala721Pro
XM_011528807.1:c.2227G>C	XP_011527109.1:p.Ala743Pro
XM_011528808.1:c.2224G>C	XP_011527110.1:p.Ala742Pro
XM_011528809.1:c.2197G>C	XP_011527111.1:p.Ala733Pro
XM_011528810.1:c.2173G>C	XP_011527112.1:p.Ala725Pro
XM_011528811.1:c.2143G>C	XP_011527113.1:p.Ala715Pro
XM_011528812.1:c.2116G>C	XP_011527114.1:p.Ala706Pro
XM_011528813.1:c.2101G>C	XP_011527115.1:p.Ala701Pro
XM_011528814.1:c.1708G>C	XP_011527116.1:p.Ala570Pro
NM_004518.5:c.2035G>C	NP_004509.2:p.Ala679Pro
NM_172106.2:c.2065G>C	NP_742104.1:p.Ala689Pro
NM_172107.3:c.2119G>C	NP_742105.1:p.Ala707Pro
NM_172108.4:c.2026G>C	NP_742106.1:p.Ala676Pro
XM_011528810.2:c.2173G>C	XP_011527112.1:p.Ala725Pro
XM_011528811.2:c.2143G>C	XP_011527113.1:p.Ala715Pro
XM_017027841.2:c.2170G>C	XP_016883330.1:p.Ala724Pro
XM_017027842.2:c.2107G>C	XP_016883331.1:p.Ala703Pro
XM_017027843.1:c.2104G>C	XP_016883332.1:p.Ala702Pro
XM_017027844.2:c.2062G>C	XP_016883333.1:p.Ala688Pro
XM_017027845.1:c.1135G>C	XP_016883334.1:p.Ala379Pro
NM_004518.6:c.2035G>C	NP_004509.2:p.Ala679Pro
NM_172106.3:c.2065G>C	NP_742104.1:p.Ala689Pro
NM_172107.4:c.2119G>C MANE Select	NP_742105.1:p.Ala707Pro
NM_172108.5:c.2026G>C	NP_742106.1:p.Ala676Pro
NM_001382235.1:c.2173G>C	NP_001369164.1:p.Ala725Pro