Canonical Allele Identifier: CA2695230083

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415034del , CM000682.2:g.63415034del	GRCh38
NC_000020.10:g.62046387del , CM000682.1:g.62046387del	GRCh37
NC_000020.9:g.61516831del	NCBI36
NG_009004.1:g.62608del
NG_009004.2:g.62608del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1341del	ENSP00000516702.1:p.Ser448HisfsTer?
ENST00000359125.7:c.1395del MANE Select	ENSP00000352035.2:p.Ser466HisfsTer?
ENST00000637193.1:c.792del	ENSP00000490734.1:p.Ser265HisfsTer?
ENST00000344462.8:c.1305del	ENSP00000339611.4:p.Ser436HisfsTer?
ENST00000357249.6:c.963del	ENSP00000349789.3:p.Ser322HisfsTer?
ENST00000359125.6:c.1395del	ENSP00000352035.2:p.Ser466HisfsTer?
ENST00000360480.7:c.1311del	ENSP00000353668.3:p.Ser438HisfsTer?
ENST00000370224.5:c.1311del	ENSP00000359244.2:p.Ser438HisfsTer?
ENST00000625514.2:c.1275del	ENSP00000486040.1:p.Ser426HisfsTer?
ENST00000626839.2:c.1341del	ENSP00000486706.1:p.Ser448HisfsTer?
ENST00000627221.2:c.455del
ENST00000629241.2:c.1311del	ENSP00000487142.1:p.Ser438HisfsTer?
ENST00000629318.1:c.3del	ENSP00000487384.1:p.Ser2HisfsTer?
ENST00000629676.2:c.1311del	ENSP00000486194.1:p.Ser438HisfsTer?
NM_004518.4:c.1311del	NP_004509.2:p.Ser438HisfsTer?
NM_172106.1:c.1341del	NP_742104.1:p.Ser448HisfsTer?
NM_172107.2:c.1395del	NP_742105.1:p.Ser466HisfsTer?
NM_172108.3:c.1305del	NP_742106.1:p.Ser436HisfsTer?
XM_006723787.1:c.1395del	XP_006723850.1:p.Ser466HisfsTer?
XM_011528807.1:c.1395del	XP_011527109.1:p.Ser466HisfsTer?
XM_011528808.1:c.1395del	XP_011527110.1:p.Ser466HisfsTer?
XM_011528809.1:c.1365del	XP_011527111.1:p.Ser456HisfsTer?
XM_011528810.1:c.1341del	XP_011527112.1:p.Ser448HisfsTer?
XM_011528811.1:c.1311del	XP_011527113.1:p.Ser438HisfsTer?
XM_011528812.1:c.1395del	XP_011527114.1:p.Ser466HisfsTer?
XM_011528813.1:c.1269del	XP_011527115.1:p.Ser424HisfsTer?
XM_011528814.1:c.876del	XP_011527116.1:p.Ser293HisfsTer?
XM_011528815.1:c.1395del	XP_011527117.1:p.Ser466HisfsTer?
NM_004518.5:c.1311del	NP_004509.2:p.Ser438HisfsTer?
NM_172106.2:c.1341del	NP_742104.1:p.Ser448HisfsTer?
NM_172107.3:c.1395del	NP_742105.1:p.Ser466HisfsTer?
NM_172108.4:c.1305del	NP_742106.1:p.Ser436HisfsTer?
XM_011528810.2:c.1341del	XP_011527112.1:p.Ser448HisfsTer?
XM_011528811.2:c.1311del	XP_011527113.1:p.Ser438HisfsTer?
XM_017027841.2:c.1341del	XP_016883330.1:p.Ser448HisfsTer?
XM_017027842.2:c.1341del	XP_016883331.1:p.Ser448HisfsTer?
XM_017027843.1:c.1272del	XP_016883332.1:p.Ser425HisfsTer?
XM_017027844.2:c.1341del	XP_016883333.1:p.Ser448HisfsTer?
XM_017027845.1:c.303del	XP_016883334.1:p.Ser102HisfsTer?
NM_004518.6:c.1311del	NP_004509.2:p.Ser438HisfsTer?
NM_172106.3:c.1341del	NP_742104.1:p.Ser448HisfsTer?
NM_172107.4:c.1395del MANE Select	NP_742105.1:p.Ser466HisfsTer?
NM_172108.5:c.1305del	NP_742106.1:p.Ser436HisfsTer?
NM_001382235.1:c.1341del	NP_001369164.1:p.Ser448HisfsTer?