Canonical Allele Identifier: CA2374774566

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 969769
• ClinVar RCV Id: RCV001245191
• dbSNP Id: rs2079980257

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407360_63407362del , CM000682.2:g.63407360_63407362del	GRCh38
NC_000020.10:g.62038713_62038715del , CM000682.1:g.62038713_62038715del	GRCh37
NC_000020.9:g.61509157_61509159del	NCBI36
NG_009004.1:g.70284_70286del
NG_009004.2:g.70284_70286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1960_1962del	ENSP00000516702.1:p.Lys654del
ENST00000359125.7:c.1906_1908del MANE Select	ENSP00000352035.2:p.Lys636del
ENST00000637193.1:c.1303_1305del	ENSP00000490734.1:p.Lys435del
ENST00000637338.1:n.63_65del
ENST00000344462.8:c.1813_1815del	ENSP00000339611.4:p.Lys605del
ENST00000357249.6:c.1474_1476del	ENSP00000349789.3:p.Lys492del
ENST00000359125.6:c.1906_1908del	ENSP00000352035.2:p.Lys636del
ENST00000360480.7:c.1822_1824del	ENSP00000353668.3:p.Lys608del
ENST00000370224.5:c.1930_1932del	ENSP00000359244.2:p.Lys644del
ENST00000625514.2:c.1894_1896del	ENSP00000486040.1:p.Lys632del
ENST00000626839.2:c.1852_1854del	ENSP00000486706.1:p.Lys618del
ENST00000629241.2:c.1822_1824del	ENSP00000487142.1:p.Lys608del
ENST00000629676.2:c.1679+6093_1679+6095del	ENSP00000486194.1:n.1679+6093_1679+6095del
NM_004518.4:c.1822_1824del	NP_004509.2:p.Lys608del
NM_172106.1:c.1852_1854del	NP_742104.1:p.Lys618del
NM_172107.2:c.1906_1908del	NP_742105.1:p.Lys636del
NM_172108.3:c.1813_1815del	NP_742106.1:p.Lys605del
XM_006723787.1:c.1948_1950del	XP_006723850.1:p.Lys650del
XM_011528807.1:c.2014_2016del	XP_011527109.1:p.Lys672del
XM_011528808.1:c.2011_2013del	XP_011527110.1:p.Lys671del
XM_011528809.1:c.1984_1986del	XP_011527111.1:p.Lys662del
XM_011528810.1:c.1960_1962del	XP_011527112.1:p.Lys654del
XM_011528811.1:c.1930_1932del	XP_011527113.1:p.Lys644del
XM_011528812.1:c.1903_1905del	XP_011527114.1:p.Lys635del
XM_011528813.1:c.1888_1890del	XP_011527115.1:p.Lys630del
XM_011528814.1:c.1495_1497del	XP_011527116.1:p.Lys499del
NM_004518.5:c.1822_1824del	NP_004509.2:p.Lys608del
NM_172106.2:c.1852_1854del	NP_742104.1:p.Lys618del
NM_172107.3:c.1906_1908del	NP_742105.1:p.Lys636del
NM_172108.4:c.1813_1815del	NP_742106.1:p.Lys605del
XM_011528810.2:c.1960_1962del	XP_011527112.1:p.Lys654del
XM_011528811.2:c.1930_1932del	XP_011527113.1:p.Lys644del
XM_017027841.2:c.1957_1959del	XP_016883330.1:p.Lys653del
XM_017027842.2:c.1894_1896del	XP_016883331.1:p.Lys632del
XM_017027843.1:c.1891_1893del	XP_016883332.1:p.Lys631del
XM_017027844.2:c.1849_1851del	XP_016883333.1:p.Lys617del
XM_017027845.1:c.922_924del	XP_016883334.1:p.Lys308del
NM_004518.6:c.1822_1824del	NP_004509.2:p.Lys608del
NM_172106.3:c.1852_1854del	NP_742104.1:p.Lys618del
NM_172107.4:c.1906_1908del MANE Select	NP_742105.1:p.Lys636del
NM_172108.5:c.1813_1815del	NP_742106.1:p.Lys605del
NM_001382235.1:c.1960_1962del	NP_001369164.1:p.Lys654del