Canonical Allele Identifier: CA409637937

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038319A>C (hg19) ; chr20:g.63406966A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406966A>C , CM000682.2:g.63406966A>C	GRCh38
NC_000020.10:g.62038319A>C , CM000682.1:g.62038319A>C	GRCh37
NC_000020.9:g.61508763A>C	NCBI36
NG_009004.1:g.70675T>G
NG_009004.2:g.70675T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2351T>G	ENSP00000516702.1:p.Leu784Arg
ENST00000359125.7:c.2297T>G MANE Select	ENSP00000352035.2:p.Leu766Arg
ENST00000637193.1:c.1694T>G	ENSP00000490734.1:p.Leu565Arg
ENST00000344462.8:c.2204T>G	ENSP00000339611.4:p.Leu735Arg
ENST00000357249.6:c.1865T>G	ENSP00000349789.3:p.Leu622Arg
ENST00000359125.6:c.2297T>G	ENSP00000352035.2:p.Leu766Arg
ENST00000360480.7:c.2213T>G	ENSP00000353668.3:p.Leu738Arg
ENST00000370224.5:c.2241+80T>G	ENSP00000359244.2:n.2241+80T>G
ENST00000625514.2:c.2205+80T>G	ENSP00000486040.1:n.2205+80T>G
ENST00000626839.2:c.2243T>G	ENSP00000486706.1:p.Leu748Arg
ENST00000629241.2:c.2133+80T>G	ENSP00000487142.1:n.2133+80T>G
ENST00000629676.2:c.1680-6123T>G	ENSP00000486194.1:n.1680-6123T>G
NM_004518.4:c.2213T>G	NP_004509.2:p.Leu738Arg
NM_172106.1:c.2243T>G	NP_742104.1:p.Leu748Arg
NM_172107.2:c.2297T>G	NP_742105.1:p.Leu766Arg
NM_172108.3:c.2204T>G	NP_742106.1:p.Leu735Arg
XM_006723787.1:c.2339T>G	XP_006723850.1:p.Leu780Arg
XM_011528807.1:c.2405T>G	XP_011527109.1:p.Leu802Arg
XM_011528808.1:c.2402T>G	XP_011527110.1:p.Leu801Arg
XM_011528809.1:c.2375T>G	XP_011527111.1:p.Leu792Arg
XM_011528810.1:c.2351T>G	XP_011527112.1:p.Leu784Arg
XM_011528811.1:c.2321T>G	XP_011527113.1:p.Leu774Arg
XM_011528812.1:c.2294T>G	XP_011527114.1:p.Leu765Arg
XM_011528813.1:c.2279T>G	XP_011527115.1:p.Leu760Arg
XM_011528814.1:c.1886T>G	XP_011527116.1:p.Leu629Arg
NM_004518.5:c.2213T>G	NP_004509.2:p.Leu738Arg
NM_172106.2:c.2243T>G	NP_742104.1:p.Leu748Arg
NM_172107.3:c.2297T>G	NP_742105.1:p.Leu766Arg
NM_172108.4:c.2204T>G	NP_742106.1:p.Leu735Arg
XM_011528810.2:c.2351T>G	XP_011527112.1:p.Leu784Arg
XM_011528811.2:c.2321T>G	XP_011527113.1:p.Leu774Arg
XM_017027841.2:c.2348T>G	XP_016883330.1:p.Leu783Arg
XM_017027842.2:c.2285T>G	XP_016883331.1:p.Leu762Arg
XM_017027843.1:c.2282T>G	XP_016883332.1:p.Leu761Arg
XM_017027844.2:c.2240T>G	XP_016883333.1:p.Leu747Arg
XM_017027845.1:c.1313T>G	XP_016883334.1:p.Leu438Arg
NM_004518.6:c.2213T>G	NP_004509.2:p.Leu738Arg
NM_172106.3:c.2243T>G	NP_742104.1:p.Leu748Arg
NM_172107.4:c.2297T>G MANE Select	NP_742105.1:p.Leu766Arg
NM_172108.5:c.2204T>G	NP_742106.1:p.Leu735Arg
NM_001382235.1:c.2351T>G	NP_001369164.1:p.Leu784Arg