Canonical Allele Identifier: CA409639145

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 626125
• ClinVar RCV Id: RCV000768248 ; RCV001855971
• dbSNP Id: rs1326189284
• MyVariant Identifiers: chr20:g.62038586C>G (hg19) ; chr20:g.63407233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407233C>G , CM000682.2:g.63407233C>G	GRCh38
NC_000020.10:g.62038586C>G , CM000682.1:g.62038586C>G	GRCh37
NC_000020.9:g.61509030C>G	NCBI36
NG_009004.1:g.70408G>C
NG_009004.2:g.70408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2084G>C	ENSP00000516702.1:p.Arg695Pro
ENST00000359125.7:c.2030G>C MANE Select	ENSP00000352035.2:p.Arg677Pro
ENST00000637193.1:c.1427G>C	ENSP00000490734.1:p.Arg476Pro
ENST00000344462.8:c.1937G>C	ENSP00000339611.4:p.Arg646Pro
ENST00000357249.6:c.1598G>C	ENSP00000349789.3:p.Arg533Pro
ENST00000359125.6:c.2030G>C	ENSP00000352035.2:p.Arg677Pro
ENST00000360480.7:c.1946G>C	ENSP00000353668.3:p.Arg649Pro
ENST00000370224.5:c.2054G>C	ENSP00000359244.2:p.Arg685Pro
ENST00000625514.2:c.2018G>C	ENSP00000486040.1:p.Arg673Pro
ENST00000626839.2:c.1976G>C	ENSP00000486706.1:p.Arg659Pro
ENST00000629241.2:c.1946G>C	ENSP00000487142.1:p.Arg649Pro
ENST00000629676.2:c.1679+6217G>C	ENSP00000486194.1:n.1679+6217G>C
NM_004518.4:c.1946G>C	NP_004509.2:p.Arg649Pro
NM_172106.1:c.1976G>C	NP_742104.1:p.Arg659Pro
NM_172107.2:c.2030G>C	NP_742105.1:p.Arg677Pro
NM_172108.3:c.1937G>C	NP_742106.1:p.Arg646Pro
XM_006723787.1:c.2072G>C	XP_006723850.1:p.Arg691Pro
XM_011528807.1:c.2138G>C	XP_011527109.1:p.Arg713Pro
XM_011528808.1:c.2135G>C	XP_011527110.1:p.Arg712Pro
XM_011528809.1:c.2108G>C	XP_011527111.1:p.Arg703Pro
XM_011528810.1:c.2084G>C	XP_011527112.1:p.Arg695Pro
XM_011528811.1:c.2054G>C	XP_011527113.1:p.Arg685Pro
XM_011528812.1:c.2027G>C	XP_011527114.1:p.Arg676Pro
XM_011528813.1:c.2012G>C	XP_011527115.1:p.Arg671Pro
XM_011528814.1:c.1619G>C	XP_011527116.1:p.Arg540Pro
NM_004518.5:c.1946G>C	NP_004509.2:p.Arg649Pro
NM_172106.2:c.1976G>C	NP_742104.1:p.Arg659Pro
NM_172107.3:c.2030G>C	NP_742105.1:p.Arg677Pro
NM_172108.4:c.1937G>C	NP_742106.1:p.Arg646Pro
XM_011528810.2:c.2084G>C	XP_011527112.1:p.Arg695Pro
XM_011528811.2:c.2054G>C	XP_011527113.1:p.Arg685Pro
XM_017027841.2:c.2081G>C	XP_016883330.1:p.Arg694Pro
XM_017027842.2:c.2018G>C	XP_016883331.1:p.Arg673Pro
XM_017027843.1:c.2015G>C	XP_016883332.1:p.Arg672Pro
XM_017027844.2:c.1973G>C	XP_016883333.1:p.Arg658Pro
XM_017027845.1:c.1046G>C	XP_016883334.1:p.Arg349Pro
NM_004518.6:c.1946G>C	NP_004509.2:p.Arg649Pro
NM_172106.3:c.1976G>C	NP_742104.1:p.Arg659Pro
NM_172107.4:c.2030G>C MANE Select	NP_742105.1:p.Arg677Pro
NM_172108.5:c.1937G>C	NP_742106.1:p.Arg646Pro
NM_001382235.1:c.2084G>C	NP_001369164.1:p.Arg695Pro