Canonical Allele Identifier: CA2653799154

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63413939-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413939G>A , CM000682.2:g.63413939G>A	GRCh38
NC_000020.10:g.62045292G>A , CM000682.1:g.62045292G>A	GRCh37
NC_000020.9:g.61515736G>A	NCBI36
NG_009004.1:g.63702C>T
NG_009004.2:g.63702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1577+149C>T	ENSP00000516702.1:n.1577+149C>T
ENST00000359125.7:c.1631+149C>T MANE Select	ENSP00000352035.2:n.1631+149C>T
ENST00000637193.1:c.1028+149C>T	ENSP00000490734.1:n.1028+149C>T
ENST00000344462.8:c.1538+149C>T	ENSP00000339611.4:n.1538+149C>T
ENST00000357249.6:c.1199+149C>T	ENSP00000349789.3:n.1199+149C>T
ENST00000359125.6:c.1631+149C>T	ENSP00000352035.2:n.1631+149C>T
ENST00000360480.7:c.1547+149C>T	ENSP00000353668.3:n.1547+149C>T
ENST00000370224.5:c.1547+149C>T	ENSP00000359244.2:n.1547+149C>T
ENST00000625514.2:c.1511+149C>T	ENSP00000486040.1:n.1511+149C>T
ENST00000626839.2:c.1577+149C>T	ENSP00000486706.1:n.1577+149C>T
ENST00000629241.2:c.1547+149C>T	ENSP00000487142.1:n.1547+149C>T
ENST00000629318.1:c.239+149C>T	ENSP00000487384.1:n.239+149C>T
ENST00000629676.2:c.1547+149C>T	ENSP00000486194.1:n.1547+149C>T
NM_004518.4:c.1547+149C>T	NP_004509.2:n.1547+149C>T
NM_172106.1:c.1577+149C>T	NP_742104.1:n.1577+149C>T
NM_172107.2:c.1631+149C>T	NP_742105.1:n.1631+149C>T
NM_172108.3:c.1538+149C>T	NP_742106.1:n.1538+149C>T
XM_006723787.1:c.1631+149C>T	XP_006723850.1:n.1631+149C>T
XM_011528807.1:c.1631+149C>T	XP_011527109.1:n.1631+149C>T
XM_011528808.1:c.1628+149C>T	XP_011527110.1:n.1628+149C>T
XM_011528809.1:c.1601+149C>T	XP_011527111.1:n.1601+149C>T
XM_011528810.1:c.1577+149C>T	XP_011527112.1:n.1577+149C>T
XM_011528811.1:c.1547+149C>T	XP_011527113.1:n.1547+149C>T
XM_011528812.1:c.1628+149C>T	XP_011527114.1:n.1628+149C>T
XM_011528813.1:c.1505+149C>T	XP_011527115.1:n.1505+149C>T
XM_011528814.1:c.1112+149C>T	XP_011527116.1:n.1112+149C>T
XM_011528815.1:c.1631+149C>T	XP_011527117.1:n.1631+149C>T
NM_004518.5:c.1547+149C>T	NP_004509.2:n.1547+149C>T
NM_172106.2:c.1577+149C>T	NP_742104.1:n.1577+149C>T
NM_172107.3:c.1631+149C>T	NP_742105.1:n.1631+149C>T
NM_172108.4:c.1538+149C>T	NP_742106.1:n.1538+149C>T
XM_011528810.2:c.1577+149C>T	XP_011527112.1:n.1577+149C>T
XM_011528811.2:c.1547+149C>T	XP_011527113.1:n.1547+149C>T
XM_017027841.2:c.1574+149C>T	XP_016883330.1:n.1574+149C>T
XM_017027842.2:c.1577+149C>T	XP_016883331.1:n.1577+149C>T
XM_017027843.1:c.1508+149C>T	XP_016883332.1:n.1508+149C>T
XM_017027844.2:c.1574+149C>T	XP_016883333.1:n.1574+149C>T
XM_017027845.1:c.539+149C>T	XP_016883334.1:n.539+149C>T
NM_004518.6:c.1547+149C>T	NP_004509.2:n.1547+149C>T
NM_172106.3:c.1577+149C>T	NP_742104.1:n.1577+149C>T
NM_172107.4:c.1631+149C>T MANE Select	NP_742105.1:n.1631+149C>T
NM_172108.5:c.1538+149C>T	NP_742106.1:n.1538+149C>T
NM_001382235.1:c.1577+149C>T	NP_001369164.1:n.1577+149C>T