Canonical Allele Identifier: CA409637555

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038261G>C (hg19) ; chr20:g.63406908G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406908G>C , CM000682.2:g.63406908G>C	GRCh38
NC_000020.10:g.62038261G>C , CM000682.1:g.62038261G>C	GRCh37
NC_000020.9:g.61508705G>C	NCBI36
NG_009004.1:g.70733C>G
NG_009004.2:g.70733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2409C>G	ENSP00000516702.1:p.Asp803Glu
ENST00000359125.7:c.2355C>G MANE Select	ENSP00000352035.2:p.Asp785Glu
ENST00000637193.1:c.1752C>G	ENSP00000490734.1:p.Asp584Glu
ENST00000344462.8:c.2262C>G	ENSP00000339611.4:p.Asp754Glu
ENST00000357249.6:c.1923C>G	ENSP00000349789.3:p.Asp641Glu
ENST00000359125.6:c.2355C>G	ENSP00000352035.2:p.Asp785Glu
ENST00000360480.7:c.2271C>G	ENSP00000353668.3:p.Asp757Glu
ENST00000370224.5:c.2241+138C>G	ENSP00000359244.2:n.2241+138C>G
ENST00000625514.2:c.2205+138C>G	ENSP00000486040.1:n.2205+138C>G
ENST00000626839.2:c.2301C>G	ENSP00000486706.1:p.Asp767Glu
ENST00000629241.2:c.2133+138C>G	ENSP00000487142.1:n.2133+138C>G
ENST00000629676.2:c.1680-6065C>G	ENSP00000486194.1:n.1680-6065C>G
NM_004518.4:c.2271C>G	NP_004509.2:p.Asp757Glu
NM_172106.1:c.2301C>G	NP_742104.1:p.Asp767Glu
NM_172107.2:c.2355C>G	NP_742105.1:p.Asp785Glu
NM_172108.3:c.2262C>G	NP_742106.1:p.Asp754Glu
XM_006723787.1:c.2397C>G	XP_006723850.1:p.Asp799Glu
XM_011528807.1:c.2463C>G	XP_011527109.1:p.Asp821Glu
XM_011528808.1:c.2460C>G	XP_011527110.1:p.Asp820Glu
XM_011528809.1:c.2433C>G	XP_011527111.1:p.Asp811Glu
XM_011528810.1:c.2409C>G	XP_011527112.1:p.Asp803Glu
XM_011528811.1:c.2379C>G	XP_011527113.1:p.Asp793Glu
XM_011528812.1:c.2352C>G	XP_011527114.1:p.Asp784Glu
XM_011528813.1:c.2337C>G	XP_011527115.1:p.Asp779Glu
XM_011528814.1:c.1944C>G	XP_011527116.1:p.Asp648Glu
NM_004518.5:c.2271C>G	NP_004509.2:p.Asp757Glu
NM_172106.2:c.2301C>G	NP_742104.1:p.Asp767Glu
NM_172107.3:c.2355C>G	NP_742105.1:p.Asp785Glu
NM_172108.4:c.2262C>G	NP_742106.1:p.Asp754Glu
XM_011528810.2:c.2409C>G	XP_011527112.1:p.Asp803Glu
XM_011528811.2:c.2379C>G	XP_011527113.1:p.Asp793Glu
XM_017027841.2:c.2406C>G	XP_016883330.1:p.Asp802Glu
XM_017027842.2:c.2343C>G	XP_016883331.1:p.Asp781Glu
XM_017027843.1:c.2340C>G	XP_016883332.1:p.Asp780Glu
XM_017027844.2:c.2298C>G	XP_016883333.1:p.Asp766Glu
XM_017027845.1:c.1371C>G	XP_016883334.1:p.Asp457Glu
NM_004518.6:c.2271C>G	NP_004509.2:p.Asp757Glu
NM_172106.3:c.2301C>G	NP_742104.1:p.Asp767Glu
NM_172107.4:c.2355C>G MANE Select	NP_742105.1:p.Asp785Glu
NM_172108.5:c.2262C>G	NP_742106.1:p.Asp754Glu
NM_001382235.1:c.2409C>G	NP_001369164.1:p.Asp803Glu