Canonical Allele Identifier: CA2741680547

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415029del , CM000682.2:g.63415029del	GRCh38
NC_000020.10:g.62046382del , CM000682.1:g.62046382del	GRCh37
NC_000020.9:g.61516826del	NCBI36
NG_009004.1:g.62614del
NG_009004.2:g.62614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1347del	ENSP00000516702.1:p.Ser450AlafsTer?
ENST00000359125.7:c.1401del MANE Select	ENSP00000352035.2:p.Ser468AlafsTer?
ENST00000637193.1:c.798del	ENSP00000490734.1:p.Ser267AlafsTer?
ENST00000344462.8:c.1311del	ENSP00000339611.4:p.Ser438AlafsTer?
ENST00000357249.6:c.969del	ENSP00000349789.3:p.Ser324AlafsTer?
ENST00000359125.6:c.1401del	ENSP00000352035.2:p.Ser468AlafsTer?
ENST00000360480.7:c.1317del	ENSP00000353668.3:p.Ser440AlafsTer?
ENST00000370224.5:c.1317del	ENSP00000359244.2:p.Ser440AlafsTer?
ENST00000625514.2:c.1281del	ENSP00000486040.1:p.Ser428AlafsTer?
ENST00000626839.2:c.1347del	ENSP00000486706.1:p.Ser450AlafsTer?
ENST00000627221.2:c.461del
ENST00000629241.2:c.1317del	ENSP00000487142.1:p.Ser440AlafsTer?
ENST00000629318.1:c.9del	ENSP00000487384.1:p.Ser4AlafsTer?
ENST00000629676.2:c.1317del	ENSP00000486194.1:p.Ser440AlafsTer?
NM_004518.4:c.1317del	NP_004509.2:p.Ser440AlafsTer?
NM_172106.1:c.1347del	NP_742104.1:p.Ser450AlafsTer?
NM_172107.2:c.1401del	NP_742105.1:p.Ser468AlafsTer?
NM_172108.3:c.1311del	NP_742106.1:p.Ser438AlafsTer?
XM_006723787.1:c.1401del	XP_006723850.1:p.Ser468AlafsTer?
XM_011528807.1:c.1401del	XP_011527109.1:p.Ser468AlafsTer?
XM_011528808.1:c.1401del	XP_011527110.1:p.Ser468AlafsTer?
XM_011528809.1:c.1371del	XP_011527111.1:p.Ser458AlafsTer?
XM_011528810.1:c.1347del	XP_011527112.1:p.Ser450AlafsTer?
XM_011528811.1:c.1317del	XP_011527113.1:p.Ser440AlafsTer?
XM_011528812.1:c.1401del	XP_011527114.1:p.Ser468AlafsTer?
XM_011528813.1:c.1275del	XP_011527115.1:p.Ser426AlafsTer?
XM_011528814.1:c.882del	XP_011527116.1:p.Ser295AlafsTer?
XM_011528815.1:c.1401del	XP_011527117.1:p.Ser468AlafsTer?
NM_004518.5:c.1317del	NP_004509.2:p.Ser440AlafsTer?
NM_172106.2:c.1347del	NP_742104.1:p.Ser450AlafsTer?
NM_172107.3:c.1401del	NP_742105.1:p.Ser468AlafsTer?
NM_172108.4:c.1311del	NP_742106.1:p.Ser438AlafsTer?
XM_011528810.2:c.1347del	XP_011527112.1:p.Ser450AlafsTer?
XM_011528811.2:c.1317del	XP_011527113.1:p.Ser440AlafsTer?
XM_017027841.2:c.1347del	XP_016883330.1:p.Ser450AlafsTer?
XM_017027842.2:c.1347del	XP_016883331.1:p.Ser450AlafsTer?
XM_017027843.1:c.1278del	XP_016883332.1:p.Ser427AlafsTer?
XM_017027844.2:c.1347del	XP_016883333.1:p.Ser450AlafsTer?
XM_017027845.1:c.309del	XP_016883334.1:p.Ser104AlafsTer?
NM_004518.6:c.1317del	NP_004509.2:p.Ser440AlafsTer?
NM_172106.3:c.1347del	NP_742104.1:p.Ser450AlafsTer?
NM_172107.4:c.1401del MANE Select	NP_742105.1:p.Ser468AlafsTer?
NM_172108.5:c.1311del	NP_742106.1:p.Ser438AlafsTer?
NM_001382235.1:c.1347del	NP_001369164.1:p.Ser450AlafsTer?