Canonical Allele Identifier: CA1019288249
Gene: KCNQ2 HGNC NCBI

Linked Data

dbSNP Id: rs2079982677

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407420_63407422del , CM000682.2:g.63407420_63407422del GRCh38
NC_000020.10:g.62038773_62038775del , CM000682.1:g.62038773_62038775del GRCh37
NC_000020.9:g.61509217_61509219del NCBI36
NG_009004.1:g.70221_70223del
NG_009004.2:g.70221_70223del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.1942-45_1942-43del ENSP00000516702.1:n.1942-45_1942-43del
ENST00000359125.7:c.1888-45_1888-43del MANE Select ENSP00000352035.2:n.1888-45_1888-43del
ENST00000637193.1:c.1285-45_1285-43del ENSP00000490734.1:n.1285-45_1285-43del
ENST00000637338.1:n.45-45_45-43del
ENST00000344462.8:c.1795-45_1795-43del ENSP00000339611.4:n.1795-45_1795-43del
ENST00000357249.6:c.1456-45_1456-43del ENSP00000349789.3:n.1456-45_1456-43del
ENST00000359125.6:c.1888-45_1888-43del ENSP00000352035.2:n.1888-45_1888-43del
ENST00000360480.7:c.1804-45_1804-43del ENSP00000353668.3:n.1804-45_1804-43del
ENST00000370224.5:c.1912-45_1912-43del ENSP00000359244.2:n.1912-45_1912-43del
ENST00000625514.2:c.1876-45_1876-43del ENSP00000486040.1:n.1876-45_1876-43del
ENST00000626839.2:c.1834-45_1834-43del ENSP00000486706.1:n.1834-45_1834-43del
ENST00000629241.2:c.1804-45_1804-43del ENSP00000487142.1:n.1804-45_1804-43del
ENST00000629676.2:c.1679+6030_1679+6032del ENSP00000486194.1:n.1679+6030_1679+6032del
NM_004518.4:c.1804-45_1804-43del NP_004509.2:n.1804-45_1804-43del
NM_172106.1:c.1834-45_1834-43del NP_742104.1:n.1834-45_1834-43del
NM_172107.2:c.1888-45_1888-43del NP_742105.1:n.1888-45_1888-43del
NM_172108.3:c.1795-45_1795-43del NP_742106.1:n.1795-45_1795-43del
XM_006723787.1:c.1930-45_1930-43del XP_006723850.1:n.1930-45_1930-43del
XM_011528807.1:c.1996-45_1996-43del XP_011527109.1:n.1996-45_1996-43del
XM_011528808.1:c.1993-45_1993-43del XP_011527110.1:n.1993-45_1993-43del
XM_011528809.1:c.1966-45_1966-43del XP_011527111.1:n.1966-45_1966-43del
XM_011528810.1:c.1942-45_1942-43del XP_011527112.1:n.1942-45_1942-43del
XM_011528811.1:c.1912-45_1912-43del XP_011527113.1:n.1912-45_1912-43del
XM_011528812.1:c.1885-45_1885-43del XP_011527114.1:n.1885-45_1885-43del
XM_011528813.1:c.1870-45_1870-43del XP_011527115.1:n.1870-45_1870-43del
XM_011528814.1:c.1477-45_1477-43del XP_011527116.1:n.1477-45_1477-43del
NM_004518.5:c.1804-45_1804-43del NP_004509.2:n.1804-45_1804-43del
NM_172106.2:c.1834-45_1834-43del NP_742104.1:n.1834-45_1834-43del
NM_172107.3:c.1888-45_1888-43del NP_742105.1:n.1888-45_1888-43del
NM_172108.4:c.1795-45_1795-43del NP_742106.1:n.1795-45_1795-43del
XM_011528810.2:c.1942-45_1942-43del XP_011527112.1:n.1942-45_1942-43del
XM_011528811.2:c.1912-45_1912-43del XP_011527113.1:n.1912-45_1912-43del
XM_017027841.2:c.1939-45_1939-43del XP_016883330.1:n.1939-45_1939-43del
XM_017027842.2:c.1876-45_1876-43del XP_016883331.1:n.1876-45_1876-43del
XM_017027843.1:c.1873-45_1873-43del XP_016883332.1:n.1873-45_1873-43del
XM_017027844.2:c.1831-45_1831-43del XP_016883333.1:n.1831-45_1831-43del
XM_017027845.1:c.904-45_904-43del XP_016883334.1:n.904-45_904-43del
NM_004518.6:c.1804-45_1804-43del NP_004509.2:n.1804-45_1804-43del
NM_172106.3:c.1834-45_1834-43del NP_742104.1:n.1834-45_1834-43del
NM_172107.4:c.1888-45_1888-43del MANE Select NP_742105.1:n.1888-45_1888-43del
NM_172108.5:c.1795-45_1795-43del NP_742106.1:n.1795-45_1795-43del
NM_001382235.1:c.1942-45_1942-43del NP_001369164.1:n.1942-45_1942-43del