Canonical Allele Identifier: CA409637692

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038281C>G (hg19) ; chr20:g.63406928C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406928C>G , CM000682.2:g.63406928C>G	GRCh38
NC_000020.10:g.62038281C>G , CM000682.1:g.62038281C>G	GRCh37
NC_000020.9:g.61508725C>G	NCBI36
NG_009004.1:g.70713G>C
NG_009004.2:g.70713G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2389G>C	ENSP00000516702.1:p.Gly797Arg
ENST00000359125.7:c.2335G>C MANE Select	ENSP00000352035.2:p.Gly779Arg
ENST00000637193.1:c.1732G>C	ENSP00000490734.1:p.Gly578Arg
ENST00000344462.8:c.2242G>C	ENSP00000339611.4:p.Gly748Arg
ENST00000357249.6:c.1903G>C	ENSP00000349789.3:p.Gly635Arg
ENST00000359125.6:c.2335G>C	ENSP00000352035.2:p.Gly779Arg
ENST00000360480.7:c.2251G>C	ENSP00000353668.3:p.Gly751Arg
ENST00000370224.5:c.2241+118G>C	ENSP00000359244.2:n.2241+118G>C
ENST00000625514.2:c.2205+118G>C	ENSP00000486040.1:n.2205+118G>C
ENST00000626839.2:c.2281G>C	ENSP00000486706.1:p.Gly761Arg
ENST00000629241.2:c.2133+118G>C	ENSP00000487142.1:n.2133+118G>C
ENST00000629676.2:c.1680-6085G>C	ENSP00000486194.1:n.1680-6085G>C
NM_004518.4:c.2251G>C	NP_004509.2:p.Gly751Arg
NM_172106.1:c.2281G>C	NP_742104.1:p.Gly761Arg
NM_172107.2:c.2335G>C	NP_742105.1:p.Gly779Arg
NM_172108.3:c.2242G>C	NP_742106.1:p.Gly748Arg
XM_006723787.1:c.2377G>C	XP_006723850.1:p.Gly793Arg
XM_011528807.1:c.2443G>C	XP_011527109.1:p.Gly815Arg
XM_011528808.1:c.2440G>C	XP_011527110.1:p.Gly814Arg
XM_011528809.1:c.2413G>C	XP_011527111.1:p.Gly805Arg
XM_011528810.1:c.2389G>C	XP_011527112.1:p.Gly797Arg
XM_011528811.1:c.2359G>C	XP_011527113.1:p.Gly787Arg
XM_011528812.1:c.2332G>C	XP_011527114.1:p.Gly778Arg
XM_011528813.1:c.2317G>C	XP_011527115.1:p.Gly773Arg
XM_011528814.1:c.1924G>C	XP_011527116.1:p.Gly642Arg
NM_004518.5:c.2251G>C	NP_004509.2:p.Gly751Arg
NM_172106.2:c.2281G>C	NP_742104.1:p.Gly761Arg
NM_172107.3:c.2335G>C	NP_742105.1:p.Gly779Arg
NM_172108.4:c.2242G>C	NP_742106.1:p.Gly748Arg
XM_011528810.2:c.2389G>C	XP_011527112.1:p.Gly797Arg
XM_011528811.2:c.2359G>C	XP_011527113.1:p.Gly787Arg
XM_017027841.2:c.2386G>C	XP_016883330.1:p.Gly796Arg
XM_017027842.2:c.2323G>C	XP_016883331.1:p.Gly775Arg
XM_017027843.1:c.2320G>C	XP_016883332.1:p.Gly774Arg
XM_017027844.2:c.2278G>C	XP_016883333.1:p.Gly760Arg
XM_017027845.1:c.1351G>C	XP_016883334.1:p.Gly451Arg
NM_004518.6:c.2251G>C	NP_004509.2:p.Gly751Arg
NM_172106.3:c.2281G>C	NP_742104.1:p.Gly761Arg
NM_172107.4:c.2335G>C MANE Select	NP_742105.1:p.Gly779Arg
NM_172108.5:c.2242G>C	NP_742106.1:p.Gly748Arg
NM_001382235.1:c.2389G>C	NP_001369164.1:p.Gly797Arg