Canonical Allele Identifier: CA409645752

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045534G>C (hg19) ; chr20:g.63414181G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414181G>C , CM000682.2:g.63414181G>C	GRCh38
NC_000020.10:g.62045534G>C , CM000682.1:g.62045534G>C	GRCh37
NC_000020.9:g.61515978G>C	NCBI36
NG_009004.1:g.63460C>G
NG_009004.2:g.63460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1484C>G	ENSP00000516702.1:p.Pro495Arg
ENST00000359125.7:c.1538C>G MANE Select	ENSP00000352035.2:p.Pro513Arg
ENST00000637193.1:c.935C>G	ENSP00000490734.1:p.Pro312Arg
ENST00000344462.8:c.1445C>G	ENSP00000339611.4:p.Pro482Arg
ENST00000357249.6:c.1106C>G	ENSP00000349789.3:p.Pro369Arg
ENST00000359125.6:c.1538C>G	ENSP00000352035.2:p.Pro513Arg
ENST00000360480.7:c.1454C>G	ENSP00000353668.3:p.Pro485Arg
ENST00000370224.5:c.1454C>G	ENSP00000359244.2:p.Pro485Arg
ENST00000625514.2:c.1418C>G	ENSP00000486040.1:p.Pro473Arg
ENST00000626839.2:c.1484C>G	ENSP00000486706.1:p.Pro495Arg
ENST00000627221.2:c.595C>G
ENST00000629241.2:c.1454C>G	ENSP00000487142.1:p.Pro485Arg
ENST00000629318.1:c.146C>G	ENSP00000487384.1:p.Pro49Arg
ENST00000629676.2:c.1454C>G	ENSP00000486194.1:p.Pro485Arg
NM_004518.4:c.1454C>G	NP_004509.2:p.Pro485Arg
NM_172106.1:c.1484C>G	NP_742104.1:p.Pro495Arg
NM_172107.2:c.1538C>G	NP_742105.1:p.Pro513Arg
NM_172108.3:c.1445C>G	NP_742106.1:p.Pro482Arg
XM_006723787.1:c.1538C>G	XP_006723850.1:p.Pro513Arg
XM_011528807.1:c.1538C>G	XP_011527109.1:p.Pro513Arg
XM_011528808.1:c.1535C>G	XP_011527110.1:p.Pro512Arg
XM_011528809.1:c.1508C>G	XP_011527111.1:p.Pro503Arg
XM_011528810.1:c.1484C>G	XP_011527112.1:p.Pro495Arg
XM_011528811.1:c.1454C>G	XP_011527113.1:p.Pro485Arg
XM_011528812.1:c.1535C>G	XP_011527114.1:p.Pro512Arg
XM_011528813.1:c.1412C>G	XP_011527115.1:p.Pro471Arg
XM_011528814.1:c.1019C>G	XP_011527116.1:p.Pro340Arg
XM_011528815.1:c.1538C>G	XP_011527117.1:p.Pro513Arg
NM_004518.5:c.1454C>G	NP_004509.2:p.Pro485Arg
NM_172106.2:c.1484C>G	NP_742104.1:p.Pro495Arg
NM_172107.3:c.1538C>G	NP_742105.1:p.Pro513Arg
NM_172108.4:c.1445C>G	NP_742106.1:p.Pro482Arg
XM_011528810.2:c.1484C>G	XP_011527112.1:p.Pro495Arg
XM_011528811.2:c.1454C>G	XP_011527113.1:p.Pro485Arg
XM_017027841.2:c.1481C>G	XP_016883330.1:p.Pro494Arg
XM_017027842.2:c.1484C>G	XP_016883331.1:p.Pro495Arg
XM_017027843.1:c.1415C>G	XP_016883332.1:p.Pro472Arg
XM_017027844.2:c.1481C>G	XP_016883333.1:p.Pro494Arg
XM_017027845.1:c.446C>G	XP_016883334.1:p.Pro149Arg
NM_004518.6:c.1454C>G	NP_004509.2:p.Pro485Arg
NM_172106.3:c.1484C>G	NP_742104.1:p.Pro495Arg
NM_172107.4:c.1538C>G MANE Select	NP_742105.1:p.Pro513Arg
NM_172108.5:c.1445C>G	NP_742106.1:p.Pro482Arg
NM_001382235.1:c.1484C>G	NP_001369164.1:p.Pro495Arg