Canonical Allele Identifier: CA409639063

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038550A>G (hg19) ; chr20:g.63407197A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407197A>G , CM000682.2:g.63407197A>G	GRCh38
NC_000020.10:g.62038550A>G , CM000682.1:g.62038550A>G	GRCh37
NC_000020.9:g.61508994A>G	NCBI36
NG_009004.1:g.70444T>C
NG_009004.2:g.70444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2120T>C	ENSP00000516702.1:p.Ile707Thr
ENST00000359125.7:c.2066T>C MANE Select	ENSP00000352035.2:p.Ile689Thr
ENST00000637193.1:c.1463T>C	ENSP00000490734.1:p.Ile488Thr
ENST00000344462.8:c.1973T>C	ENSP00000339611.4:p.Ile658Thr
ENST00000357249.6:c.1634T>C	ENSP00000349789.3:p.Ile545Thr
ENST00000359125.6:c.2066T>C	ENSP00000352035.2:p.Ile689Thr
ENST00000360480.7:c.1982T>C	ENSP00000353668.3:p.Ile661Thr
ENST00000370224.5:c.2090T>C	ENSP00000359244.2:p.Ile697Thr
ENST00000625514.2:c.2054T>C	ENSP00000486040.1:p.Ile685Thr
ENST00000626839.2:c.2012T>C	ENSP00000486706.1:p.Ile671Thr
ENST00000629241.2:c.1982T>C	ENSP00000487142.1:p.Ile661Thr
ENST00000629676.2:c.1679+6253T>C	ENSP00000486194.1:n.1679+6253T>C
NM_004518.4:c.1982T>C	NP_004509.2:p.Ile661Thr
NM_172106.1:c.2012T>C	NP_742104.1:p.Ile671Thr
NM_172107.2:c.2066T>C	NP_742105.1:p.Ile689Thr
NM_172108.3:c.1973T>C	NP_742106.1:p.Ile658Thr
XM_006723787.1:c.2108T>C	XP_006723850.1:p.Ile703Thr
XM_011528807.1:c.2174T>C	XP_011527109.1:p.Ile725Thr
XM_011528808.1:c.2171T>C	XP_011527110.1:p.Ile724Thr
XM_011528809.1:c.2144T>C	XP_011527111.1:p.Ile715Thr
XM_011528810.1:c.2120T>C	XP_011527112.1:p.Ile707Thr
XM_011528811.1:c.2090T>C	XP_011527113.1:p.Ile697Thr
XM_011528812.1:c.2063T>C	XP_011527114.1:p.Ile688Thr
XM_011528813.1:c.2048T>C	XP_011527115.1:p.Ile683Thr
XM_011528814.1:c.1655T>C	XP_011527116.1:p.Ile552Thr
NM_004518.5:c.1982T>C	NP_004509.2:p.Ile661Thr
NM_172106.2:c.2012T>C	NP_742104.1:p.Ile671Thr
NM_172107.3:c.2066T>C	NP_742105.1:p.Ile689Thr
NM_172108.4:c.1973T>C	NP_742106.1:p.Ile658Thr
XM_011528810.2:c.2120T>C	XP_011527112.1:p.Ile707Thr
XM_011528811.2:c.2090T>C	XP_011527113.1:p.Ile697Thr
XM_017027841.2:c.2117T>C	XP_016883330.1:p.Ile706Thr
XM_017027842.2:c.2054T>C	XP_016883331.1:p.Ile685Thr
XM_017027843.1:c.2051T>C	XP_016883332.1:p.Ile684Thr
XM_017027844.2:c.2009T>C	XP_016883333.1:p.Ile670Thr
XM_017027845.1:c.1082T>C	XP_016883334.1:p.Ile361Thr
NM_004518.6:c.1982T>C	NP_004509.2:p.Ile661Thr
NM_172106.3:c.2012T>C	NP_742104.1:p.Ile671Thr
NM_172107.4:c.2066T>C MANE Select	NP_742105.1:p.Ile689Thr
NM_172108.5:c.1973T>C	NP_742106.1:p.Ile658Thr
NM_001382235.1:c.2120T>C	NP_001369164.1:p.Ile707Thr