Canonical Allele Identifier: CA409645506

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045499A>G (hg19) ; chr20:g.63414146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414146A>G , CM000682.2:g.63414146A>G	GRCh38
NC_000020.10:g.62045499A>G , CM000682.1:g.62045499A>G	GRCh37
NC_000020.9:g.61515943A>G	NCBI36
NG_009004.1:g.63495T>C
NG_009004.2:g.63495T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1519T>C	ENSP00000516702.1:p.Cys507Arg
ENST00000359125.7:c.1573T>C MANE Select	ENSP00000352035.2:p.Cys525Arg
ENST00000637193.1:c.970T>C	ENSP00000490734.1:p.Cys324Arg
ENST00000344462.8:c.1480T>C	ENSP00000339611.4:p.Cys494Arg
ENST00000357249.6:c.1141T>C	ENSP00000349789.3:p.Cys381Arg
ENST00000359125.6:c.1573T>C	ENSP00000352035.2:p.Cys525Arg
ENST00000360480.7:c.1489T>C	ENSP00000353668.3:p.Cys497Arg
ENST00000370224.5:c.1489T>C	ENSP00000359244.2:p.Cys497Arg
ENST00000625514.2:c.1453T>C	ENSP00000486040.1:p.Cys485Arg
ENST00000626839.2:c.1519T>C	ENSP00000486706.1:p.Cys507Arg
ENST00000627221.2:c.630T>C
ENST00000629241.2:c.1489T>C	ENSP00000487142.1:p.Cys497Arg
ENST00000629318.1:c.181T>C	ENSP00000487384.1:p.Cys61Arg
ENST00000629676.2:c.1489T>C	ENSP00000486194.1:p.Cys497Arg
NM_004518.4:c.1489T>C	NP_004509.2:p.Cys497Arg
NM_172106.1:c.1519T>C	NP_742104.1:p.Cys507Arg
NM_172107.2:c.1573T>C	NP_742105.1:p.Cys525Arg
NM_172108.3:c.1480T>C	NP_742106.1:p.Cys494Arg
XM_006723787.1:c.1573T>C	XP_006723850.1:p.Cys525Arg
XM_011528807.1:c.1573T>C	XP_011527109.1:p.Cys525Arg
XM_011528808.1:c.1570T>C	XP_011527110.1:p.Cys524Arg
XM_011528809.1:c.1543T>C	XP_011527111.1:p.Cys515Arg
XM_011528810.1:c.1519T>C	XP_011527112.1:p.Cys507Arg
XM_011528811.1:c.1489T>C	XP_011527113.1:p.Cys497Arg
XM_011528812.1:c.1570T>C	XP_011527114.1:p.Cys524Arg
XM_011528813.1:c.1447T>C	XP_011527115.1:p.Cys483Arg
XM_011528814.1:c.1054T>C	XP_011527116.1:p.Cys352Arg
XM_011528815.1:c.1573T>C	XP_011527117.1:p.Cys525Arg
NM_004518.5:c.1489T>C	NP_004509.2:p.Cys497Arg
NM_172106.2:c.1519T>C	NP_742104.1:p.Cys507Arg
NM_172107.3:c.1573T>C	NP_742105.1:p.Cys525Arg
NM_172108.4:c.1480T>C	NP_742106.1:p.Cys494Arg
XM_011528810.2:c.1519T>C	XP_011527112.1:p.Cys507Arg
XM_011528811.2:c.1489T>C	XP_011527113.1:p.Cys497Arg
XM_017027841.2:c.1516T>C	XP_016883330.1:p.Cys506Arg
XM_017027842.2:c.1519T>C	XP_016883331.1:p.Cys507Arg
XM_017027843.1:c.1450T>C	XP_016883332.1:p.Cys484Arg
XM_017027844.2:c.1516T>C	XP_016883333.1:p.Cys506Arg
XM_017027845.1:c.481T>C	XP_016883334.1:p.Cys161Arg
NM_004518.6:c.1489T>C	NP_004509.2:p.Cys497Arg
NM_172106.3:c.1519T>C	NP_742104.1:p.Cys507Arg
NM_172107.4:c.1573T>C MANE Select	NP_742105.1:p.Cys525Arg
NM_172108.5:c.1480T>C	NP_742106.1:p.Cys494Arg
NM_001382235.1:c.1519T>C	NP_001369164.1:p.Cys507Arg