Canonical Allele Identifier: CA409637934

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038317G>C (hg19) ; chr20:g.63406964G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406964G>C , CM000682.2:g.63406964G>C	GRCh38
NC_000020.10:g.62038317G>C , CM000682.1:g.62038317G>C	GRCh37
NC_000020.9:g.61508761G>C	NCBI36
NG_009004.1:g.70677C>G
NG_009004.2:g.70677C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2353C>G	ENSP00000516702.1:p.Arg785Gly
ENST00000359125.7:c.2299C>G MANE Select	ENSP00000352035.2:p.Arg767Gly
ENST00000637193.1:c.1696C>G	ENSP00000490734.1:p.Arg566Gly
ENST00000344462.8:c.2206C>G	ENSP00000339611.4:p.Arg736Gly
ENST00000357249.6:c.1867C>G	ENSP00000349789.3:p.Arg623Gly
ENST00000359125.6:c.2299C>G	ENSP00000352035.2:p.Arg767Gly
ENST00000360480.7:c.2215C>G	ENSP00000353668.3:p.Arg739Gly
ENST00000370224.5:c.2241+82C>G	ENSP00000359244.2:n.2241+82C>G
ENST00000625514.2:c.2205+82C>G	ENSP00000486040.1:n.2205+82C>G
ENST00000626839.2:c.2245C>G	ENSP00000486706.1:p.Arg749Gly
ENST00000629241.2:c.2133+82C>G	ENSP00000487142.1:n.2133+82C>G
ENST00000629676.2:c.1680-6121C>G	ENSP00000486194.1:n.1680-6121C>G
NM_004518.4:c.2215C>G	NP_004509.2:p.Arg739Gly
NM_172106.1:c.2245C>G	NP_742104.1:p.Arg749Gly
NM_172107.2:c.2299C>G	NP_742105.1:p.Arg767Gly
NM_172108.3:c.2206C>G	NP_742106.1:p.Arg736Gly
XM_006723787.1:c.2341C>G	XP_006723850.1:p.Arg781Gly
XM_011528807.1:c.2407C>G	XP_011527109.1:p.Arg803Gly
XM_011528808.1:c.2404C>G	XP_011527110.1:p.Arg802Gly
XM_011528809.1:c.2377C>G	XP_011527111.1:p.Arg793Gly
XM_011528810.1:c.2353C>G	XP_011527112.1:p.Arg785Gly
XM_011528811.1:c.2323C>G	XP_011527113.1:p.Arg775Gly
XM_011528812.1:c.2296C>G	XP_011527114.1:p.Arg766Gly
XM_011528813.1:c.2281C>G	XP_011527115.1:p.Arg761Gly
XM_011528814.1:c.1888C>G	XP_011527116.1:p.Arg630Gly
NM_004518.5:c.2215C>G	NP_004509.2:p.Arg739Gly
NM_172106.2:c.2245C>G	NP_742104.1:p.Arg749Gly
NM_172107.3:c.2299C>G	NP_742105.1:p.Arg767Gly
NM_172108.4:c.2206C>G	NP_742106.1:p.Arg736Gly
XM_011528810.2:c.2353C>G	XP_011527112.1:p.Arg785Gly
XM_011528811.2:c.2323C>G	XP_011527113.1:p.Arg775Gly
XM_017027841.2:c.2350C>G	XP_016883330.1:p.Arg784Gly
XM_017027842.2:c.2287C>G	XP_016883331.1:p.Arg763Gly
XM_017027843.1:c.2284C>G	XP_016883332.1:p.Arg762Gly
XM_017027844.2:c.2242C>G	XP_016883333.1:p.Arg748Gly
XM_017027845.1:c.1315C>G	XP_016883334.1:p.Arg439Gly
NM_004518.6:c.2215C>G	NP_004509.2:p.Arg739Gly
NM_172106.3:c.2245C>G	NP_742104.1:p.Arg749Gly
NM_172107.4:c.2299C>G MANE Select	NP_742105.1:p.Arg767Gly
NM_172108.5:c.2206C>G	NP_742106.1:p.Arg736Gly
NM_001382235.1:c.2353C>G	NP_001369164.1:p.Arg785Gly