Canonical Allele Identifier: CA409645118

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1036550
• ClinVar RCV Id: RCV001339579 ; RCV003235551
• dbSNP Id: rs118192232
• MyVariant Identifiers: chr20:g.62045442A>G (hg19) ; chr20:g.63414089A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414089A>G , CM000682.2:g.63414089A>G	GRCh38
NC_000020.10:g.62045442A>G , CM000682.1:g.62045442A>G	GRCh37
NC_000020.9:g.61515886A>G	NCBI36
NG_009004.1:g.63552T>C
NG_009004.2:g.63552T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1576T>C	ENSP00000516702.1:p.Cys526Arg
ENST00000359125.7:c.1630T>C MANE Select	ENSP00000352035.2:p.Cys544Arg
ENST00000637193.1:c.1027T>C	ENSP00000490734.1:p.Cys343Arg
ENST00000344462.8:c.1537T>C	ENSP00000339611.4:p.Cys513Arg
ENST00000357249.6:c.1198T>C	ENSP00000349789.3:p.Cys400Arg
ENST00000359125.6:c.1630T>C	ENSP00000352035.2:p.Cys544Arg
ENST00000360480.7:c.1546T>C	ENSP00000353668.3:p.Cys516Arg
ENST00000370224.5:c.1546T>C	ENSP00000359244.2:p.Cys516Arg
ENST00000625514.2:c.1510T>C	ENSP00000486040.1:p.Cys504Arg
ENST00000626839.2:c.1576T>C	ENSP00000486706.1:p.Cys526Arg
ENST00000627221.2:c.687T>C
ENST00000629241.2:c.1546T>C	ENSP00000487142.1:p.Cys516Arg
ENST00000629318.1:c.238T>C	ENSP00000487384.1:p.Cys80Arg
ENST00000629676.2:c.1546T>C	ENSP00000486194.1:p.Cys516Arg
NM_004518.4:c.1546T>C	NP_004509.2:p.Cys516Arg
NM_172106.1:c.1576T>C	NP_742104.1:p.Cys526Arg
NM_172107.2:c.1630T>C	NP_742105.1:p.Cys544Arg
NM_172108.3:c.1537T>C	NP_742106.1:p.Cys513Arg
XM_006723787.1:c.1630T>C	XP_006723850.1:p.Cys544Arg
XM_011528807.1:c.1630T>C	XP_011527109.1:p.Cys544Arg
XM_011528808.1:c.1627T>C	XP_011527110.1:p.Cys543Arg
XM_011528809.1:c.1600T>C	XP_011527111.1:p.Cys534Arg
XM_011528810.1:c.1576T>C	XP_011527112.1:p.Cys526Arg
XM_011528811.1:c.1546T>C	XP_011527113.1:p.Cys516Arg
XM_011528812.1:c.1627T>C	XP_011527114.1:p.Cys543Arg
XM_011528813.1:c.1504T>C	XP_011527115.1:p.Cys502Arg
XM_011528814.1:c.1111T>C	XP_011527116.1:p.Cys371Arg
XM_011528815.1:c.1630T>C	XP_011527117.1:p.Cys544Arg
NM_004518.5:c.1546T>C	NP_004509.2:p.Cys516Arg
NM_172106.2:c.1576T>C	NP_742104.1:p.Cys526Arg
NM_172107.3:c.1630T>C	NP_742105.1:p.Cys544Arg
NM_172108.4:c.1537T>C	NP_742106.1:p.Cys513Arg
XM_011528810.2:c.1576T>C	XP_011527112.1:p.Cys526Arg
XM_011528811.2:c.1546T>C	XP_011527113.1:p.Cys516Arg
XM_017027841.2:c.1573T>C	XP_016883330.1:p.Cys525Arg
XM_017027842.2:c.1576T>C	XP_016883331.1:p.Cys526Arg
XM_017027843.1:c.1507T>C	XP_016883332.1:p.Cys503Arg
XM_017027844.2:c.1573T>C	XP_016883333.1:p.Cys525Arg
XM_017027845.1:c.538T>C	XP_016883334.1:p.Cys180Arg
NM_004518.6:c.1546T>C	NP_004509.2:p.Cys516Arg
NM_172106.3:c.1576T>C	NP_742104.1:p.Cys526Arg
NM_172107.4:c.1630T>C MANE Select	NP_742105.1:p.Cys544Arg
NM_172108.5:c.1537T>C	NP_742106.1:p.Cys513Arg
NM_001382235.1:c.1576T>C	NP_001369164.1:p.Cys526Arg