Canonical Allele Identifier: CA409639081

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038558A>C (hg19) ; chr20:g.63407205A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407205A>C , CM000682.2:g.63407205A>C	GRCh38
NC_000020.10:g.62038558A>C , CM000682.1:g.62038558A>C	GRCh37
NC_000020.9:g.61509002A>C	NCBI36
NG_009004.1:g.70436T>G
NG_009004.2:g.70436T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2112T>G	ENSP00000516702.1:p.Ile704Met
ENST00000359125.7:c.2058T>G MANE Select	ENSP00000352035.2:p.Ile686Met
ENST00000637193.1:c.1455T>G	ENSP00000490734.1:p.Ile485Met
ENST00000344462.8:c.1965T>G	ENSP00000339611.4:p.Ile655Met
ENST00000357249.6:c.1626T>G	ENSP00000349789.3:p.Ile542Met
ENST00000359125.6:c.2058T>G	ENSP00000352035.2:p.Ile686Met
ENST00000360480.7:c.1974T>G	ENSP00000353668.3:p.Ile658Met
ENST00000370224.5:c.2082T>G	ENSP00000359244.2:p.Ile694Met
ENST00000625514.2:c.2046T>G	ENSP00000486040.1:p.Ile682Met
ENST00000626839.2:c.2004T>G	ENSP00000486706.1:p.Ile668Met
ENST00000629241.2:c.1974T>G	ENSP00000487142.1:p.Ile658Met
ENST00000629676.2:c.1679+6245T>G	ENSP00000486194.1:n.1679+6245T>G
NM_004518.4:c.1974T>G	NP_004509.2:p.Ile658Met
NM_172106.1:c.2004T>G	NP_742104.1:p.Ile668Met
NM_172107.2:c.2058T>G	NP_742105.1:p.Ile686Met
NM_172108.3:c.1965T>G	NP_742106.1:p.Ile655Met
XM_006723787.1:c.2100T>G	XP_006723850.1:p.Ile700Met
XM_011528807.1:c.2166T>G	XP_011527109.1:p.Ile722Met
XM_011528808.1:c.2163T>G	XP_011527110.1:p.Ile721Met
XM_011528809.1:c.2136T>G	XP_011527111.1:p.Ile712Met
XM_011528810.1:c.2112T>G	XP_011527112.1:p.Ile704Met
XM_011528811.1:c.2082T>G	XP_011527113.1:p.Ile694Met
XM_011528812.1:c.2055T>G	XP_011527114.1:p.Ile685Met
XM_011528813.1:c.2040T>G	XP_011527115.1:p.Ile680Met
XM_011528814.1:c.1647T>G	XP_011527116.1:p.Ile549Met
NM_004518.5:c.1974T>G	NP_004509.2:p.Ile658Met
NM_172106.2:c.2004T>G	NP_742104.1:p.Ile668Met
NM_172107.3:c.2058T>G	NP_742105.1:p.Ile686Met
NM_172108.4:c.1965T>G	NP_742106.1:p.Ile655Met
XM_011528810.2:c.2112T>G	XP_011527112.1:p.Ile704Met
XM_011528811.2:c.2082T>G	XP_011527113.1:p.Ile694Met
XM_017027841.2:c.2109T>G	XP_016883330.1:p.Ile703Met
XM_017027842.2:c.2046T>G	XP_016883331.1:p.Ile682Met
XM_017027843.1:c.2043T>G	XP_016883332.1:p.Ile681Met
XM_017027844.2:c.2001T>G	XP_016883333.1:p.Ile667Met
XM_017027845.1:c.1074T>G	XP_016883334.1:p.Ile358Met
NM_004518.6:c.1974T>G	NP_004509.2:p.Ile658Met
NM_172106.3:c.2004T>G	NP_742104.1:p.Ile668Met
NM_172107.4:c.2058T>G MANE Select	NP_742105.1:p.Ile686Met
NM_172108.5:c.1965T>G	NP_742106.1:p.Ile655Met
NM_001382235.1:c.2112T>G	NP_001369164.1:p.Ile704Met