Canonical Allele Identifier: CA511339319

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407157-C-G
• MyVariant Identifiers: chr20:g.62038510C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407157C>G , CM000682.2:g.63407157C>G	GRCh38
NC_000020.10:g.62038510C>G , CM000682.1:g.62038510C>G	GRCh37
NC_000020.9:g.61508954C>G	NCBI36
NG_009004.1:g.70484G>C
NG_009004.2:g.70484G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2160G>C	ENSP00000516702.1:p.Ser720=
ENST00000359125.7:c.2106G>C MANE Select	ENSP00000352035.2:p.Ser702=
ENST00000637193.1:c.1503G>C	ENSP00000490734.1:p.Ser501=
ENST00000344462.8:c.2013G>C	ENSP00000339611.4:p.Ser671=
ENST00000357249.6:c.1674G>C	ENSP00000349789.3:p.Ser558=
ENST00000359125.6:c.2106G>C	ENSP00000352035.2:p.Ser702=
ENST00000360480.7:c.2022G>C	ENSP00000353668.3:p.Ser674=
ENST00000370224.5:c.2130G>C	ENSP00000359244.2:p.Ser710=
ENST00000625514.2:c.2094G>C	ENSP00000486040.1:p.Ser698=
ENST00000626839.2:c.2052G>C	ENSP00000486706.1:p.Ser684=
ENST00000629241.2:c.2022G>C	ENSP00000487142.1:p.Ser674=
ENST00000629676.2:c.1679+6293G>C	ENSP00000486194.1:n.1679+6293G>C
NM_004518.4:c.2022G>C	NP_004509.2:p.Ser674=
NM_172106.1:c.2052G>C	NP_742104.1:p.Ser684=
NM_172107.2:c.2106G>C	NP_742105.1:p.Ser702=
NM_172108.3:c.2013G>C	NP_742106.1:p.Ser671=
XM_006723787.1:c.2148G>C	XP_006723850.1:p.Ser716=
XM_011528807.1:c.2214G>C	XP_011527109.1:p.Ser738=
XM_011528808.1:c.2211G>C	XP_011527110.1:p.Ser737=
XM_011528809.1:c.2184G>C	XP_011527111.1:p.Ser728=
XM_011528810.1:c.2160G>C	XP_011527112.1:p.Ser720=
XM_011528811.1:c.2130G>C	XP_011527113.1:p.Ser710=
XM_011528812.1:c.2103G>C	XP_011527114.1:p.Ser701=
XM_011528813.1:c.2088G>C	XP_011527115.1:p.Ser696=
XM_011528814.1:c.1695G>C	XP_011527116.1:p.Ser565=
NM_004518.5:c.2022G>C	NP_004509.2:p.Ser674=
NM_172106.2:c.2052G>C	NP_742104.1:p.Ser684=
NM_172107.3:c.2106G>C	NP_742105.1:p.Ser702=
NM_172108.4:c.2013G>C	NP_742106.1:p.Ser671=
XM_011528810.2:c.2160G>C	XP_011527112.1:p.Ser720=
XM_011528811.2:c.2130G>C	XP_011527113.1:p.Ser710=
XM_017027841.2:c.2157G>C	XP_016883330.1:p.Ser719=
XM_017027842.2:c.2094G>C	XP_016883331.1:p.Ser698=
XM_017027843.1:c.2091G>C	XP_016883332.1:p.Ser697=
XM_017027844.2:c.2049G>C	XP_016883333.1:p.Ser683=
XM_017027845.1:c.1122G>C	XP_016883334.1:p.Ser374=
NM_004518.6:c.2022G>C	NP_004509.2:p.Ser674=
NM_172106.3:c.2052G>C	NP_742104.1:p.Ser684=
NM_172107.4:c.2106G>C MANE Select	NP_742105.1:p.Ser702=
NM_172108.5:c.2013G>C	NP_742106.1:p.Ser671=
NM_001382235.1:c.2160G>C	NP_001369164.1:p.Ser720=