Canonical Allele Identifier: CA9958121

Gene: KCNQ2

Linked Data

• dbSNP Id: rs757187432
• ExAC: 20:62038388 G / T
• gnomAD v4: 20-63407035-G-T
• MyVariant Identifiers: chr20:g.62038388G>T (hg19) ; chr20:g.63407035G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407035G>T , CM000682.2:g.63407035G>T	GRCh38
NC_000020.10:g.62038388G>T , CM000682.1:g.62038388G>T	GRCh37
NC_000020.9:g.61508832G>T	NCBI36
NG_009004.1:g.70606C>A
NG_009004.2:g.70606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2282C>A	ENSP00000516702.1:p.Pro761Gln
ENST00000359125.7:c.2228C>A MANE Select	ENSP00000352035.2:p.Pro743Gln
ENST00000637193.1:c.1625C>A	ENSP00000490734.1:p.Pro542Gln
ENST00000344462.8:c.2135C>A	ENSP00000339611.4:p.Pro712Gln
ENST00000357249.6:c.1796C>A	ENSP00000349789.3:p.Pro599Gln
ENST00000359125.6:c.2228C>A	ENSP00000352035.2:p.Pro743Gln
ENST00000360480.7:c.2144C>A	ENSP00000353668.3:p.Pro715Gln
ENST00000370224.5:c.2241+11C>A	ENSP00000359244.2:n.2241+11C>A
ENST00000625514.2:c.2205+11C>A	ENSP00000486040.1:n.2205+11C>A
ENST00000626839.2:c.2174C>A	ENSP00000486706.1:p.Pro725Gln
ENST00000629241.2:c.2133+11C>A	ENSP00000487142.1:n.2133+11C>A
ENST00000629676.2:c.1680-6192C>A	ENSP00000486194.1:n.1680-6192C>A
NM_004518.4:c.2144C>A	NP_004509.2:p.Pro715Gln
NM_172106.1:c.2174C>A	NP_742104.1:p.Pro725Gln
NM_172107.2:c.2228C>A	NP_742105.1:p.Pro743Gln
NM_172108.3:c.2135C>A	NP_742106.1:p.Pro712Gln
XM_006723787.1:c.2270C>A	XP_006723850.1:p.Pro757Gln
XM_011528807.1:c.2336C>A	XP_011527109.1:p.Pro779Gln
XM_011528808.1:c.2333C>A	XP_011527110.1:p.Pro778Gln
XM_011528809.1:c.2306C>A	XP_011527111.1:p.Pro769Gln
XM_011528810.1:c.2282C>A	XP_011527112.1:p.Pro761Gln
XM_011528811.1:c.2252C>A	XP_011527113.1:p.Pro751Gln
XM_011528812.1:c.2225C>A	XP_011527114.1:p.Pro742Gln
XM_011528813.1:c.2210C>A	XP_011527115.1:p.Pro737Gln
XM_011528814.1:c.1817C>A	XP_011527116.1:p.Pro606Gln
NM_004518.5:c.2144C>A	NP_004509.2:p.Pro715Gln
NM_172106.2:c.2174C>A	NP_742104.1:p.Pro725Gln
NM_172107.3:c.2228C>A	NP_742105.1:p.Pro743Gln
NM_172108.4:c.2135C>A	NP_742106.1:p.Pro712Gln
XM_011528810.2:c.2282C>A	XP_011527112.1:p.Pro761Gln
XM_011528811.2:c.2252C>A	XP_011527113.1:p.Pro751Gln
XM_017027841.2:c.2279C>A	XP_016883330.1:p.Pro760Gln
XM_017027842.2:c.2216C>A	XP_016883331.1:p.Pro739Gln
XM_017027843.1:c.2213C>A	XP_016883332.1:p.Pro738Gln
XM_017027844.2:c.2171C>A	XP_016883333.1:p.Pro724Gln
XM_017027845.1:c.1244C>A	XP_016883334.1:p.Pro415Gln
NM_004518.6:c.2144C>A	NP_004509.2:p.Pro715Gln
NM_172106.3:c.2174C>A	NP_742104.1:p.Pro725Gln
NM_172107.4:c.2228C>A MANE Select	NP_742105.1:p.Pro743Gln
NM_172108.5:c.2135C>A	NP_742106.1:p.Pro712Gln
NM_001382235.1:c.2282C>A	NP_001369164.1:p.Pro761Gln