Canonical Allele Identifier: CA511339424

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038216A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406863A>C , CM000682.2:g.63406863A>C	GRCh38
NC_000020.10:g.62038216A>C , CM000682.1:g.62038216A>C	GRCh37
NC_000020.9:g.61508660A>C	NCBI36
NG_009004.1:g.70778T>G
NG_009004.2:g.70778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2454T>G	ENSP00000516702.1:p.Arg818=
ENST00000359125.7:c.2400T>G MANE Select	ENSP00000352035.2:p.Arg800=
ENST00000637193.1:c.1797T>G	ENSP00000490734.1:p.Arg599=
ENST00000344462.8:c.2307T>G	ENSP00000339611.4:p.Arg769=
ENST00000357249.6:c.1968T>G	ENSP00000349789.3:p.Arg656=
ENST00000359125.6:c.2400T>G	ENSP00000352035.2:p.Arg800=
ENST00000360480.7:c.2316T>G	ENSP00000353668.3:p.Arg772=
ENST00000370224.5:c.2241+183T>G	ENSP00000359244.2:n.2241+183T>G
ENST00000625514.2:c.2205+183T>G	ENSP00000486040.1:n.2205+183T>G
ENST00000626839.2:c.2346T>G	ENSP00000486706.1:p.Arg782=
ENST00000629241.2:c.2133+183T>G	ENSP00000487142.1:n.2133+183T>G
ENST00000629676.2:c.1680-6020T>G	ENSP00000486194.1:n.1680-6020T>G
NM_004518.4:c.2316T>G	NP_004509.2:p.Arg772=
NM_172106.1:c.2346T>G	NP_742104.1:p.Arg782=
NM_172107.2:c.2400T>G	NP_742105.1:p.Arg800=
NM_172108.3:c.2307T>G	NP_742106.1:p.Arg769=
XM_006723787.1:c.2442T>G	XP_006723850.1:p.Arg814=
XM_011528807.1:c.2508T>G	XP_011527109.1:p.Arg836=
XM_011528808.1:c.2505T>G	XP_011527110.1:p.Arg835=
XM_011528809.1:c.2478T>G	XP_011527111.1:p.Arg826=
XM_011528810.1:c.2454T>G	XP_011527112.1:p.Arg818=
XM_011528811.1:c.2424T>G	XP_011527113.1:p.Arg808=
XM_011528812.1:c.2397T>G	XP_011527114.1:p.Arg799=
XM_011528813.1:c.2382T>G	XP_011527115.1:p.Arg794=
XM_011528814.1:c.1989T>G	XP_011527116.1:p.Arg663=
NM_004518.5:c.2316T>G	NP_004509.2:p.Arg772=
NM_172106.2:c.2346T>G	NP_742104.1:p.Arg782=
NM_172107.3:c.2400T>G	NP_742105.1:p.Arg800=
NM_172108.4:c.2307T>G	NP_742106.1:p.Arg769=
XM_011528810.2:c.2454T>G	XP_011527112.1:p.Arg818=
XM_011528811.2:c.2424T>G	XP_011527113.1:p.Arg808=
XM_017027841.2:c.2451T>G	XP_016883330.1:p.Arg817=
XM_017027842.2:c.2388T>G	XP_016883331.1:p.Arg796=
XM_017027843.1:c.2385T>G	XP_016883332.1:p.Arg795=
XM_017027844.2:c.2343T>G	XP_016883333.1:p.Arg781=
XM_017027845.1:c.1416T>G	XP_016883334.1:p.Arg472=
NM_004518.6:c.2316T>G	NP_004509.2:p.Arg772=
NM_172106.3:c.2346T>G	NP_742104.1:p.Arg782=
NM_172107.4:c.2400T>G MANE Select	NP_742105.1:p.Arg800=
NM_172108.5:c.2307T>G	NP_742106.1:p.Arg769=
NM_001382235.1:c.2454T>G	NP_001369164.1:p.Arg818=