Canonical Allele Identifier: CA2374774434

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407135_63407137delinsCAG , CM000682.2:g.63407135_63407137delinsCAG	GRCh38
NC_000020.10:g.62038488_62038490delinsCAG , CM000682.1:g.62038488_62038490delinsCAG	GRCh37
NC_000020.9:g.61508932_61508934delinsCAG	NCBI36
NG_009004.1:g.70504_70506delinsCTG
NG_009004.2:g.70504_70506delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2180_2182delinsCTG	ENSP00000516702.1:p.Pro727=
ENST00000359125.7:c.2126_2128delinsCTG MANE Select	ENSP00000352035.2:p.Pro709=
ENST00000637193.1:c.1523_1525delinsCTG	ENSP00000490734.1:p.Pro508=
ENST00000344462.8:c.2033_2035delinsCTG	ENSP00000339611.4:p.Pro678=
ENST00000357249.6:c.1694_1696delinsCTG	ENSP00000349789.3:p.Pro565=
ENST00000359125.6:c.2126_2128delinsCTG	ENSP00000352035.2:p.Pro709=
ENST00000360480.7:c.2042_2044delinsCTG	ENSP00000353668.3:p.Pro681=
ENST00000370224.5:c.2150_2152delinsCTG	ENSP00000359244.2:p.Pro717=
ENST00000625514.2:c.2114_2116delinsCTG	ENSP00000486040.1:p.Pro705=
ENST00000626839.2:c.2072_2074delinsCTG	ENSP00000486706.1:p.Pro691=
ENST00000629241.2:c.2042_2044delinsCTG	ENSP00000487142.1:p.Pro681=
ENST00000629676.2:c.1680-6294_1680-6292delinsCTG	ENSP00000486194.1:n.1680-6294_1680-6292delinsCTG
NM_004518.4:c.2042_2044delinsCTG	NP_004509.2:p.Pro681=
NM_172106.1:c.2072_2074delinsCTG	NP_742104.1:p.Pro691=
NM_172107.2:c.2126_2128delinsCTG	NP_742105.1:p.Pro709=
NM_172108.3:c.2033_2035delinsCTG	NP_742106.1:p.Pro678=
XM_006723787.1:c.2168_2170delinsCTG	XP_006723850.1:p.Pro723=
XM_011528807.1:c.2234_2236delinsCTG	XP_011527109.1:p.Pro745=
XM_011528808.1:c.2231_2233delinsCTG	XP_011527110.1:p.Pro744=
XM_011528809.1:c.2204_2206delinsCTG	XP_011527111.1:p.Pro735=
XM_011528810.1:c.2180_2182delinsCTG	XP_011527112.1:p.Pro727=
XM_011528811.1:c.2150_2152delinsCTG	XP_011527113.1:p.Pro717=
XM_011528812.1:c.2123_2125delinsCTG	XP_011527114.1:p.Pro708=
XM_011528813.1:c.2108_2110delinsCTG	XP_011527115.1:p.Pro703=
XM_011528814.1:c.1715_1717delinsCTG	XP_011527116.1:p.Pro572=
NM_004518.5:c.2042_2044delinsCTG	NP_004509.2:p.Pro681=
NM_172106.2:c.2072_2074delinsCTG	NP_742104.1:p.Pro691=
NM_172107.3:c.2126_2128delinsCTG	NP_742105.1:p.Pro709=
NM_172108.4:c.2033_2035delinsCTG	NP_742106.1:p.Pro678=
XM_011528810.2:c.2180_2182delinsCTG	XP_011527112.1:p.Pro727=
XM_011528811.2:c.2150_2152delinsCTG	XP_011527113.1:p.Pro717=
XM_017027841.2:c.2177_2179delinsCTG	XP_016883330.1:p.Pro726=
XM_017027842.2:c.2114_2116delinsCTG	XP_016883331.1:p.Pro705=
XM_017027843.1:c.2111_2113delinsCTG	XP_016883332.1:p.Pro704=
XM_017027844.2:c.2069_2071delinsCTG	XP_016883333.1:p.Pro690=
XM_017027845.1:c.1142_1144delinsCTG	XP_016883334.1:p.Pro381=
NM_004518.6:c.2042_2044delinsCTG	NP_004509.2:p.Pro681=
NM_172106.3:c.2072_2074delinsCTG	NP_742104.1:p.Pro691=
NM_172107.4:c.2126_2128delinsCTG MANE Select	NP_742105.1:p.Pro709=
NM_172108.5:c.2033_2035delinsCTG	NP_742106.1:p.Pro678=
NM_001382235.1:c.2180_2182delinsCTG	NP_001369164.1:p.Pro727=