Canonical Allele Identifier: CA090958

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407018C>A , CM000682.2:g.63407018C>A	GRCh38
NC_000020.10:g.62038371C>A , CM000682.1:g.62038371C>A	GRCh37
NC_000020.9:g.61508815C>A	NCBI36
NG_009004.1:g.70623G>T
NG_009004.2:g.70623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2299G>T	ENSP00000516702.1:p.Glu767Ter
ENST00000359125.7:c.2245G>T MANE Select	ENSP00000352035.2:p.Glu749Ter
ENST00000637193.1:c.1642G>T	ENSP00000490734.1:p.Glu548Ter
ENST00000344462.8:c.2152G>T	ENSP00000339611.4:p.Glu718Ter
ENST00000357249.6:c.1813G>T	ENSP00000349789.3:p.Glu605Ter
ENST00000359125.6:c.2245G>T	ENSP00000352035.2:p.Glu749Ter
ENST00000360480.7:c.2161G>T	ENSP00000353668.3:p.Glu721Ter
ENST00000370224.5:c.2241+28G>T	ENSP00000359244.2:n.2241+28G>T
ENST00000625514.2:c.2205+28G>T	ENSP00000486040.1:n.2205+28G>T
ENST00000626839.2:c.2191G>T	ENSP00000486706.1:p.Glu731Ter
ENST00000629241.2:c.2133+28G>T	ENSP00000487142.1:n.2133+28G>T
ENST00000629676.2:c.1680-6175G>T	ENSP00000486194.1:n.1680-6175G>T
NM_004518.4:c.2161G>T	NP_004509.2:p.Glu721Ter
NM_172106.1:c.2191G>T	NP_742104.1:p.Glu731Ter
NM_172107.2:c.2245G>T	NP_742105.1:p.Glu749Ter
NM_172108.3:c.2152G>T	NP_742106.1:p.Glu718Ter
XM_006723787.1:c.2287G>T	XP_006723850.1:p.Glu763Ter
XM_011528807.1:c.2353G>T	XP_011527109.1:p.Glu785Ter
XM_011528808.1:c.2350G>T	XP_011527110.1:p.Glu784Ter
XM_011528809.1:c.2323G>T	XP_011527111.1:p.Glu775Ter
XM_011528810.1:c.2299G>T	XP_011527112.1:p.Glu767Ter
XM_011528811.1:c.2269G>T	XP_011527113.1:p.Glu757Ter
XM_011528812.1:c.2242G>T	XP_011527114.1:p.Glu748Ter
XM_011528813.1:c.2227G>T	XP_011527115.1:p.Glu743Ter
XM_011528814.1:c.1834G>T	XP_011527116.1:p.Glu612Ter
NM_004518.5:c.2161G>T	NP_004509.2:p.Glu721Ter
NM_172106.2:c.2191G>T	NP_742104.1:p.Glu731Ter
NM_172107.3:c.2245G>T	NP_742105.1:p.Glu749Ter
NM_172108.4:c.2152G>T	NP_742106.1:p.Glu718Ter
XM_011528810.2:c.2299G>T	XP_011527112.1:p.Glu767Ter
XM_011528811.2:c.2269G>T	XP_011527113.1:p.Glu757Ter
XM_017027841.2:c.2296G>T	XP_016883330.1:p.Glu766Ter
XM_017027842.2:c.2233G>T	XP_016883331.1:p.Glu745Ter
XM_017027843.1:c.2230G>T	XP_016883332.1:p.Glu744Ter
XM_017027844.2:c.2188G>T	XP_016883333.1:p.Glu730Ter
XM_017027845.1:c.1261G>T	XP_016883334.1:p.Glu421Ter
NM_004518.6:c.2161G>T	NP_004509.2:p.Glu721Ter
NM_172106.3:c.2191G>T	NP_742104.1:p.Glu731Ter
NM_172107.4:c.2245G>T MANE Select	NP_742105.1:p.Glu749Ter
NM_172108.5:c.2152G>T	NP_742106.1:p.Glu718Ter
NM_001382235.1:c.2299G>T	NP_001369164.1:p.Glu767Ter