Canonical Allele Identifier: CA409638562

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1451257793
• gnomAD v2: 20-62038416-C-G
• MyVariant Identifiers: chr20:g.62038416C>G (hg19) ; chr20:g.63407063C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407063C>G , CM000682.2:g.63407063C>G	GRCh38
NC_000020.10:g.62038416C>G , CM000682.1:g.62038416C>G	GRCh37
NC_000020.9:g.61508860C>G	NCBI36
NG_009004.1:g.70578G>C
NG_009004.2:g.70578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2254G>C	ENSP00000516702.1:p.Gly752Arg
ENST00000359125.7:c.2200G>C MANE Select	ENSP00000352035.2:p.Gly734Arg
ENST00000637193.1:c.1597G>C	ENSP00000490734.1:p.Gly533Arg
ENST00000344462.8:c.2107G>C	ENSP00000339611.4:p.Gly703Arg
ENST00000357249.6:c.1768G>C	ENSP00000349789.3:p.Gly590Arg
ENST00000359125.6:c.2200G>C	ENSP00000352035.2:p.Gly734Arg
ENST00000360480.7:c.2116G>C	ENSP00000353668.3:p.Gly706Arg
ENST00000370224.5:c.2224G>C	ENSP00000359244.2:p.Gly742Arg
ENST00000625514.2:c.2188G>C	ENSP00000486040.1:p.Gly730Arg
ENST00000626839.2:c.2146G>C	ENSP00000486706.1:p.Gly716Arg
ENST00000629241.2:c.2116G>C	ENSP00000487142.1:p.Gly706Arg
ENST00000629676.2:c.1680-6220G>C	ENSP00000486194.1:n.1680-6220G>C
NM_004518.4:c.2116G>C	NP_004509.2:p.Gly706Arg
NM_172106.1:c.2146G>C	NP_742104.1:p.Gly716Arg
NM_172107.2:c.2200G>C	NP_742105.1:p.Gly734Arg
NM_172108.3:c.2107G>C	NP_742106.1:p.Gly703Arg
XM_006723787.1:c.2242G>C	XP_006723850.1:p.Gly748Arg
XM_011528807.1:c.2308G>C	XP_011527109.1:p.Gly770Arg
XM_011528808.1:c.2305G>C	XP_011527110.1:p.Gly769Arg
XM_011528809.1:c.2278G>C	XP_011527111.1:p.Gly760Arg
XM_011528810.1:c.2254G>C	XP_011527112.1:p.Gly752Arg
XM_011528811.1:c.2224G>C	XP_011527113.1:p.Gly742Arg
XM_011528812.1:c.2197G>C	XP_011527114.1:p.Gly733Arg
XM_011528813.1:c.2182G>C	XP_011527115.1:p.Gly728Arg
XM_011528814.1:c.1789G>C	XP_011527116.1:p.Gly597Arg
NM_004518.5:c.2116G>C	NP_004509.2:p.Gly706Arg
NM_172106.2:c.2146G>C	NP_742104.1:p.Gly716Arg
NM_172107.3:c.2200G>C	NP_742105.1:p.Gly734Arg
NM_172108.4:c.2107G>C	NP_742106.1:p.Gly703Arg
XM_011528810.2:c.2254G>C	XP_011527112.1:p.Gly752Arg
XM_011528811.2:c.2224G>C	XP_011527113.1:p.Gly742Arg
XM_017027841.2:c.2251G>C	XP_016883330.1:p.Gly751Arg
XM_017027842.2:c.2188G>C	XP_016883331.1:p.Gly730Arg
XM_017027843.1:c.2185G>C	XP_016883332.1:p.Gly729Arg
XM_017027844.2:c.2143G>C	XP_016883333.1:p.Gly715Arg
XM_017027845.1:c.1216G>C	XP_016883334.1:p.Gly406Arg
NM_004518.6:c.2116G>C	NP_004509.2:p.Gly706Arg
NM_172106.3:c.2146G>C	NP_742104.1:p.Gly716Arg
NM_172107.4:c.2200G>C MANE Select	NP_742105.1:p.Gly734Arg
NM_172108.5:c.2107G>C	NP_742106.1:p.Gly703Arg
NM_001382235.1:c.2254G>C	NP_001369164.1:p.Gly752Arg