Canonical Allele Identifier: CA409638980

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407159-A-G
• MyVariant Identifiers: chr20:g.62038512A>G (hg19) ; chr20:g.63407159A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407159A>G , CM000682.2:g.63407159A>G	GRCh38
NC_000020.10:g.62038512A>G , CM000682.1:g.62038512A>G	GRCh37
NC_000020.9:g.61508956A>G	NCBI36
NG_009004.1:g.70482T>C
NG_009004.2:g.70482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2158T>C	ENSP00000516702.1:p.Ser720Pro
ENST00000359125.7:c.2104T>C MANE Select	ENSP00000352035.2:p.Ser702Pro
ENST00000637193.1:c.1501T>C	ENSP00000490734.1:p.Ser501Pro
ENST00000344462.8:c.2011T>C	ENSP00000339611.4:p.Ser671Pro
ENST00000357249.6:c.1672T>C	ENSP00000349789.3:p.Ser558Pro
ENST00000359125.6:c.2104T>C	ENSP00000352035.2:p.Ser702Pro
ENST00000360480.7:c.2020T>C	ENSP00000353668.3:p.Ser674Pro
ENST00000370224.5:c.2128T>C	ENSP00000359244.2:p.Ser710Pro
ENST00000625514.2:c.2092T>C	ENSP00000486040.1:p.Ser698Pro
ENST00000626839.2:c.2050T>C	ENSP00000486706.1:p.Ser684Pro
ENST00000629241.2:c.2020T>C	ENSP00000487142.1:p.Ser674Pro
ENST00000629676.2:c.1679+6291T>C	ENSP00000486194.1:n.1679+6291T>C
NM_004518.4:c.2020T>C	NP_004509.2:p.Ser674Pro
NM_172106.1:c.2050T>C	NP_742104.1:p.Ser684Pro
NM_172107.2:c.2104T>C	NP_742105.1:p.Ser702Pro
NM_172108.3:c.2011T>C	NP_742106.1:p.Ser671Pro
XM_006723787.1:c.2146T>C	XP_006723850.1:p.Ser716Pro
XM_011528807.1:c.2212T>C	XP_011527109.1:p.Ser738Pro
XM_011528808.1:c.2209T>C	XP_011527110.1:p.Ser737Pro
XM_011528809.1:c.2182T>C	XP_011527111.1:p.Ser728Pro
XM_011528810.1:c.2158T>C	XP_011527112.1:p.Ser720Pro
XM_011528811.1:c.2128T>C	XP_011527113.1:p.Ser710Pro
XM_011528812.1:c.2101T>C	XP_011527114.1:p.Ser701Pro
XM_011528813.1:c.2086T>C	XP_011527115.1:p.Ser696Pro
XM_011528814.1:c.1693T>C	XP_011527116.1:p.Ser565Pro
NM_004518.5:c.2020T>C	NP_004509.2:p.Ser674Pro
NM_172106.2:c.2050T>C	NP_742104.1:p.Ser684Pro
NM_172107.3:c.2104T>C	NP_742105.1:p.Ser702Pro
NM_172108.4:c.2011T>C	NP_742106.1:p.Ser671Pro
XM_011528810.2:c.2158T>C	XP_011527112.1:p.Ser720Pro
XM_011528811.2:c.2128T>C	XP_011527113.1:p.Ser710Pro
XM_017027841.2:c.2155T>C	XP_016883330.1:p.Ser719Pro
XM_017027842.2:c.2092T>C	XP_016883331.1:p.Ser698Pro
XM_017027843.1:c.2089T>C	XP_016883332.1:p.Ser697Pro
XM_017027844.2:c.2047T>C	XP_016883333.1:p.Ser683Pro
XM_017027845.1:c.1120T>C	XP_016883334.1:p.Ser374Pro
NM_004518.6:c.2020T>C	NP_004509.2:p.Ser674Pro
NM_172106.3:c.2050T>C	NP_742104.1:p.Ser684Pro
NM_172107.4:c.2104T>C MANE Select	NP_742105.1:p.Ser702Pro
NM_172108.5:c.2011T>C	NP_742106.1:p.Ser671Pro
NM_001382235.1:c.2158T>C	NP_001369164.1:p.Ser720Pro