Canonical Allele Identifier: CA409637683

Gene: KCNQ2

Linked Data

• dbSNP Id: rs866160375
• gnomAD v2: 20-62038280-C-A
• MyVariant Identifiers: chr20:g.62038280C>A (hg19) ; chr20:g.63406927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406927C>A , CM000682.2:g.63406927C>A	GRCh38
NC_000020.10:g.62038280C>A , CM000682.1:g.62038280C>A	GRCh37
NC_000020.9:g.61508724C>A	NCBI36
NG_009004.1:g.70714G>T
NG_009004.2:g.70714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2390G>T	ENSP00000516702.1:p.Gly797Val
ENST00000359125.7:c.2336G>T MANE Select	ENSP00000352035.2:p.Gly779Val
ENST00000637193.1:c.1733G>T	ENSP00000490734.1:p.Gly578Val
ENST00000344462.8:c.2243G>T	ENSP00000339611.4:p.Gly748Val
ENST00000357249.6:c.1904G>T	ENSP00000349789.3:p.Gly635Val
ENST00000359125.6:c.2336G>T	ENSP00000352035.2:p.Gly779Val
ENST00000360480.7:c.2252G>T	ENSP00000353668.3:p.Gly751Val
ENST00000370224.5:c.2241+119G>T	ENSP00000359244.2:n.2241+119G>T
ENST00000625514.2:c.2205+119G>T	ENSP00000486040.1:n.2205+119G>T
ENST00000626839.2:c.2282G>T	ENSP00000486706.1:p.Gly761Val
ENST00000629241.2:c.2133+119G>T	ENSP00000487142.1:n.2133+119G>T
ENST00000629676.2:c.1680-6084G>T	ENSP00000486194.1:n.1680-6084G>T
NM_004518.4:c.2252G>T	NP_004509.2:p.Gly751Val
NM_172106.1:c.2282G>T	NP_742104.1:p.Gly761Val
NM_172107.2:c.2336G>T	NP_742105.1:p.Gly779Val
NM_172108.3:c.2243G>T	NP_742106.1:p.Gly748Val
XM_006723787.1:c.2378G>T	XP_006723850.1:p.Gly793Val
XM_011528807.1:c.2444G>T	XP_011527109.1:p.Gly815Val
XM_011528808.1:c.2441G>T	XP_011527110.1:p.Gly814Val
XM_011528809.1:c.2414G>T	XP_011527111.1:p.Gly805Val
XM_011528810.1:c.2390G>T	XP_011527112.1:p.Gly797Val
XM_011528811.1:c.2360G>T	XP_011527113.1:p.Gly787Val
XM_011528812.1:c.2333G>T	XP_011527114.1:p.Gly778Val
XM_011528813.1:c.2318G>T	XP_011527115.1:p.Gly773Val
XM_011528814.1:c.1925G>T	XP_011527116.1:p.Gly642Val
NM_004518.5:c.2252G>T	NP_004509.2:p.Gly751Val
NM_172106.2:c.2282G>T	NP_742104.1:p.Gly761Val
NM_172107.3:c.2336G>T	NP_742105.1:p.Gly779Val
NM_172108.4:c.2243G>T	NP_742106.1:p.Gly748Val
XM_011528810.2:c.2390G>T	XP_011527112.1:p.Gly797Val
XM_011528811.2:c.2360G>T	XP_011527113.1:p.Gly787Val
XM_017027841.2:c.2387G>T	XP_016883330.1:p.Gly796Val
XM_017027842.2:c.2324G>T	XP_016883331.1:p.Gly775Val
XM_017027843.1:c.2321G>T	XP_016883332.1:p.Gly774Val
XM_017027844.2:c.2279G>T	XP_016883333.1:p.Gly760Val
XM_017027845.1:c.1352G>T	XP_016883334.1:p.Gly451Val
NM_004518.6:c.2252G>T	NP_004509.2:p.Gly751Val
NM_172106.3:c.2282G>T	NP_742104.1:p.Gly761Val
NM_172107.4:c.2336G>T MANE Select	NP_742105.1:p.Gly779Val
NM_172108.5:c.2243G>T	NP_742106.1:p.Gly748Val
NM_001382235.1:c.2390G>T	NP_001369164.1:p.Gly797Val