Canonical Allele Identifier: CA2499225796

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1298875
• ClinVar RCV Id: RCV001727205
• dbSNP Id: rs2145556956

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415063del , CM000682.2:g.63415063del	GRCh38
NC_000020.10:g.62046416del , CM000682.1:g.62046416del	GRCh37
NC_000020.9:g.61516860del	NCBI36
NG_009004.1:g.62581del
NG_009004.2:g.62581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1314del	ENSP00000516702.1:p.Ser439ProfsTer7
ENST00000359125.7:c.1368del MANE Select	ENSP00000352035.2:p.Ser457ProfsTer7
ENST00000637193.1:c.765del	ENSP00000490734.1:p.Ser256ProfsTer7
ENST00000344462.8:c.1278del	ENSP00000339611.4:p.Ser427ProfsTer7
ENST00000357249.6:c.936del	ENSP00000349789.3:p.Ser313ProfsTer7
ENST00000359125.6:c.1368del	ENSP00000352035.2:p.Ser457ProfsTer7
ENST00000360480.7:c.1284del	ENSP00000353668.3:p.Ser429ProfsTer7
ENST00000370224.5:c.1284del	ENSP00000359244.2:p.Ser429ProfsTer7
ENST00000625514.2:c.1248del	ENSP00000486040.1:p.Ser417ProfsTer7
ENST00000626839.2:c.1314del	ENSP00000486706.1:p.Ser439ProfsTer7
ENST00000627221.2:c.428del
ENST00000629241.2:c.1284del	ENSP00000487142.1:p.Ser429ProfsTer7
ENST00000629676.2:c.1284del	ENSP00000486194.1:p.Ser429ProfsTer7
NM_004518.4:c.1284del	NP_004509.2:p.Ser429ProfsTer7
NM_172106.1:c.1314del	NP_742104.1:p.Ser439ProfsTer7
NM_172107.2:c.1368del	NP_742105.1:p.Ser457ProfsTer7
NM_172108.3:c.1278del	NP_742106.1:p.Ser427ProfsTer7
XM_006723787.1:c.1368del	XP_006723850.1:p.Ser457ProfsTer7
XM_011528807.1:c.1368del	XP_011527109.1:p.Ser457ProfsTer7
XM_011528808.1:c.1368del	XP_011527110.1:p.Ser457ProfsTer7
XM_011528809.1:c.1338del	XP_011527111.1:p.Ser447ProfsTer7
XM_011528810.1:c.1314del	XP_011527112.1:p.Ser439ProfsTer7
XM_011528811.1:c.1284del	XP_011527113.1:p.Ser429ProfsTer7
XM_011528812.1:c.1368del	XP_011527114.1:p.Ser457ProfsTer7
XM_011528813.1:c.1242del	XP_011527115.1:p.Ser415ProfsTer7
XM_011528814.1:c.849del	XP_011527116.1:p.Ser284ProfsTer7
XM_011528815.1:c.1368del	XP_011527117.1:p.Ser457ProfsTer7
NM_004518.5:c.1284del	NP_004509.2:p.Ser429ProfsTer7
NM_172106.2:c.1314del	NP_742104.1:p.Ser439ProfsTer7
NM_172107.3:c.1368del	NP_742105.1:p.Ser457ProfsTer7
NM_172108.4:c.1278del	NP_742106.1:p.Ser427ProfsTer7
XM_011528810.2:c.1314del	XP_011527112.1:p.Ser439ProfsTer7
XM_011528811.2:c.1284del	XP_011527113.1:p.Ser429ProfsTer7
XM_017027841.2:c.1314del	XP_016883330.1:p.Ser439ProfsTer7
XM_017027842.2:c.1314del	XP_016883331.1:p.Ser439ProfsTer7
XM_017027843.1:c.1245del	XP_016883332.1:p.Ser416ProfsTer7
XM_017027844.2:c.1314del	XP_016883333.1:p.Ser439ProfsTer7
XM_017027845.1:c.276del	XP_016883334.1:p.Ser93ProfsTer7
NM_004518.6:c.1284del	NP_004509.2:p.Ser429ProfsTer7
NM_172106.3:c.1314del	NP_742104.1:p.Ser439ProfsTer7
NM_172107.4:c.1368del MANE Select	NP_742105.1:p.Ser457ProfsTer7
NM_172108.5:c.1278del	NP_742106.1:p.Ser427ProfsTer7
NM_001382235.1:c.1314del	NP_001369164.1:p.Ser439ProfsTer7