Canonical Allele Identifier: CA409645211

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045462T>G (hg19) ; chr20:g.63414109T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414109T>G , CM000682.2:g.63414109T>G	GRCh38
NC_000020.10:g.62045462T>G , CM000682.1:g.62045462T>G	GRCh37
NC_000020.9:g.61515906T>G	NCBI36
NG_009004.1:g.63532A>C
NG_009004.2:g.63532A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1556A>C	ENSP00000516702.1:p.Lys519Thr
ENST00000359125.7:c.1610A>C MANE Select	ENSP00000352035.2:p.Lys537Thr
ENST00000637193.1:c.1007A>C	ENSP00000490734.1:p.Lys336Thr
ENST00000344462.8:c.1517A>C	ENSP00000339611.4:p.Lys506Thr
ENST00000357249.6:c.1178A>C	ENSP00000349789.3:p.Lys393Thr
ENST00000359125.6:c.1610A>C	ENSP00000352035.2:p.Lys537Thr
ENST00000360480.7:c.1526A>C	ENSP00000353668.3:p.Lys509Thr
ENST00000370224.5:c.1526A>C	ENSP00000359244.2:p.Lys509Thr
ENST00000625514.2:c.1490A>C	ENSP00000486040.1:p.Lys497Thr
ENST00000626839.2:c.1556A>C	ENSP00000486706.1:p.Lys519Thr
ENST00000627221.2:c.667A>C
ENST00000629241.2:c.1526A>C	ENSP00000487142.1:p.Lys509Thr
ENST00000629318.1:c.218A>C	ENSP00000487384.1:p.Lys73Thr
ENST00000629676.2:c.1526A>C	ENSP00000486194.1:p.Lys509Thr
NM_004518.4:c.1526A>C	NP_004509.2:p.Lys509Thr
NM_172106.1:c.1556A>C	NP_742104.1:p.Lys519Thr
NM_172107.2:c.1610A>C	NP_742105.1:p.Lys537Thr
NM_172108.3:c.1517A>C	NP_742106.1:p.Lys506Thr
XM_006723787.1:c.1610A>C	XP_006723850.1:p.Lys537Thr
XM_011528807.1:c.1610A>C	XP_011527109.1:p.Lys537Thr
XM_011528808.1:c.1607A>C	XP_011527110.1:p.Lys536Thr
XM_011528809.1:c.1580A>C	XP_011527111.1:p.Lys527Thr
XM_011528810.1:c.1556A>C	XP_011527112.1:p.Lys519Thr
XM_011528811.1:c.1526A>C	XP_011527113.1:p.Lys509Thr
XM_011528812.1:c.1607A>C	XP_011527114.1:p.Lys536Thr
XM_011528813.1:c.1484A>C	XP_011527115.1:p.Lys495Thr
XM_011528814.1:c.1091A>C	XP_011527116.1:p.Lys364Thr
XM_011528815.1:c.1610A>C	XP_011527117.1:p.Lys537Thr
NM_004518.5:c.1526A>C	NP_004509.2:p.Lys509Thr
NM_172106.2:c.1556A>C	NP_742104.1:p.Lys519Thr
NM_172107.3:c.1610A>C	NP_742105.1:p.Lys537Thr
NM_172108.4:c.1517A>C	NP_742106.1:p.Lys506Thr
XM_011528810.2:c.1556A>C	XP_011527112.1:p.Lys519Thr
XM_011528811.2:c.1526A>C	XP_011527113.1:p.Lys509Thr
XM_017027841.2:c.1553A>C	XP_016883330.1:p.Lys518Thr
XM_017027842.2:c.1556A>C	XP_016883331.1:p.Lys519Thr
XM_017027843.1:c.1487A>C	XP_016883332.1:p.Lys496Thr
XM_017027844.2:c.1553A>C	XP_016883333.1:p.Lys518Thr
XM_017027845.1:c.518A>C	XP_016883334.1:p.Lys173Thr
NM_004518.6:c.1526A>C	NP_004509.2:p.Lys509Thr
NM_172106.3:c.1556A>C	NP_742104.1:p.Lys519Thr
NM_172107.4:c.1610A>C MANE Select	NP_742105.1:p.Lys537Thr
NM_172108.5:c.1517A>C	NP_742106.1:p.Lys506Thr
NM_001382235.1:c.1556A>C	NP_001369164.1:p.Lys519Thr