Canonical Allele Identifier: CA409639470

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 581083
• ClinVar RCV Id: RCV000704806
• dbSNP Id: rs1568862485
• MyVariant Identifiers: chr20:g.62038697A>G (hg19) ; chr20:g.63407344A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407344A>G , CM000682.2:g.63407344A>G	GRCh38
NC_000020.10:g.62038697A>G , CM000682.1:g.62038697A>G	GRCh37
NC_000020.9:g.61509141A>G	NCBI36
NG_009004.1:g.70297T>C
NG_009004.2:g.70297T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1973T>C	ENSP00000516702.1:p.Leu658Pro
ENST00000359125.7:c.1919T>C MANE Select	ENSP00000352035.2:p.Leu640Pro
ENST00000637193.1:c.1316T>C	ENSP00000490734.1:p.Leu439Pro
ENST00000637338.1:n.76T>C
ENST00000344462.8:c.1826T>C	ENSP00000339611.4:p.Leu609Pro
ENST00000357249.6:c.1487T>C	ENSP00000349789.3:p.Leu496Pro
ENST00000359125.6:c.1919T>C	ENSP00000352035.2:p.Leu640Pro
ENST00000360480.7:c.1835T>C	ENSP00000353668.3:p.Leu612Pro
ENST00000370224.5:c.1943T>C	ENSP00000359244.2:p.Leu648Pro
ENST00000625514.2:c.1907T>C	ENSP00000486040.1:p.Leu636Pro
ENST00000626839.2:c.1865T>C	ENSP00000486706.1:p.Leu622Pro
ENST00000629241.2:c.1835T>C	ENSP00000487142.1:p.Leu612Pro
ENST00000629676.2:c.1679+6106T>C	ENSP00000486194.1:n.1679+6106T>C
NM_004518.4:c.1835T>C	NP_004509.2:p.Leu612Pro
NM_172106.1:c.1865T>C	NP_742104.1:p.Leu622Pro
NM_172107.2:c.1919T>C	NP_742105.1:p.Leu640Pro
NM_172108.3:c.1826T>C	NP_742106.1:p.Leu609Pro
XM_006723787.1:c.1961T>C	XP_006723850.1:p.Leu654Pro
XM_011528807.1:c.2027T>C	XP_011527109.1:p.Leu676Pro
XM_011528808.1:c.2024T>C	XP_011527110.1:p.Leu675Pro
XM_011528809.1:c.1997T>C	XP_011527111.1:p.Leu666Pro
XM_011528810.1:c.1973T>C	XP_011527112.1:p.Leu658Pro
XM_011528811.1:c.1943T>C	XP_011527113.1:p.Leu648Pro
XM_011528812.1:c.1916T>C	XP_011527114.1:p.Leu639Pro
XM_011528813.1:c.1901T>C	XP_011527115.1:p.Leu634Pro
XM_011528814.1:c.1508T>C	XP_011527116.1:p.Leu503Pro
NM_004518.5:c.1835T>C	NP_004509.2:p.Leu612Pro
NM_172106.2:c.1865T>C	NP_742104.1:p.Leu622Pro
NM_172107.3:c.1919T>C	NP_742105.1:p.Leu640Pro
NM_172108.4:c.1826T>C	NP_742106.1:p.Leu609Pro
XM_011528810.2:c.1973T>C	XP_011527112.1:p.Leu658Pro
XM_011528811.2:c.1943T>C	XP_011527113.1:p.Leu648Pro
XM_017027841.2:c.1970T>C	XP_016883330.1:p.Leu657Pro
XM_017027842.2:c.1907T>C	XP_016883331.1:p.Leu636Pro
XM_017027843.1:c.1904T>C	XP_016883332.1:p.Leu635Pro
XM_017027844.2:c.1862T>C	XP_016883333.1:p.Leu621Pro
XM_017027845.1:c.935T>C	XP_016883334.1:p.Leu312Pro
NM_004518.6:c.1835T>C	NP_004509.2:p.Leu612Pro
NM_172106.3:c.1865T>C	NP_742104.1:p.Leu622Pro
NM_172107.4:c.1919T>C MANE Select	NP_742105.1:p.Leu640Pro
NM_172108.5:c.1826T>C	NP_742106.1:p.Leu609Pro
NM_001382235.1:c.1973T>C	NP_001369164.1:p.Leu658Pro