Canonical Allele Identifier: CA409638977

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038511G>C (hg19) ; chr20:g.63407158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407158G>C , CM000682.2:g.63407158G>C	GRCh38
NC_000020.10:g.62038511G>C , CM000682.1:g.62038511G>C	GRCh37
NC_000020.9:g.61508955G>C	NCBI36
NG_009004.1:g.70483C>G
NG_009004.2:g.70483C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2159C>G	ENSP00000516702.1:p.Ser720Trp
ENST00000359125.7:c.2105C>G MANE Select	ENSP00000352035.2:p.Ser702Trp
ENST00000637193.1:c.1502C>G	ENSP00000490734.1:p.Ser501Trp
ENST00000344462.8:c.2012C>G	ENSP00000339611.4:p.Ser671Trp
ENST00000357249.6:c.1673C>G	ENSP00000349789.3:p.Ser558Trp
ENST00000359125.6:c.2105C>G	ENSP00000352035.2:p.Ser702Trp
ENST00000360480.7:c.2021C>G	ENSP00000353668.3:p.Ser674Trp
ENST00000370224.5:c.2129C>G	ENSP00000359244.2:p.Ser710Trp
ENST00000625514.2:c.2093C>G	ENSP00000486040.1:p.Ser698Trp
ENST00000626839.2:c.2051C>G	ENSP00000486706.1:p.Ser684Trp
ENST00000629241.2:c.2021C>G	ENSP00000487142.1:p.Ser674Trp
ENST00000629676.2:c.1679+6292C>G	ENSP00000486194.1:n.1679+6292C>G
NM_004518.4:c.2021C>G	NP_004509.2:p.Ser674Trp
NM_172106.1:c.2051C>G	NP_742104.1:p.Ser684Trp
NM_172107.2:c.2105C>G	NP_742105.1:p.Ser702Trp
NM_172108.3:c.2012C>G	NP_742106.1:p.Ser671Trp
XM_006723787.1:c.2147C>G	XP_006723850.1:p.Ser716Trp
XM_011528807.1:c.2213C>G	XP_011527109.1:p.Ser738Trp
XM_011528808.1:c.2210C>G	XP_011527110.1:p.Ser737Trp
XM_011528809.1:c.2183C>G	XP_011527111.1:p.Ser728Trp
XM_011528810.1:c.2159C>G	XP_011527112.1:p.Ser720Trp
XM_011528811.1:c.2129C>G	XP_011527113.1:p.Ser710Trp
XM_011528812.1:c.2102C>G	XP_011527114.1:p.Ser701Trp
XM_011528813.1:c.2087C>G	XP_011527115.1:p.Ser696Trp
XM_011528814.1:c.1694C>G	XP_011527116.1:p.Ser565Trp
NM_004518.5:c.2021C>G	NP_004509.2:p.Ser674Trp
NM_172106.2:c.2051C>G	NP_742104.1:p.Ser684Trp
NM_172107.3:c.2105C>G	NP_742105.1:p.Ser702Trp
NM_172108.4:c.2012C>G	NP_742106.1:p.Ser671Trp
XM_011528810.2:c.2159C>G	XP_011527112.1:p.Ser720Trp
XM_011528811.2:c.2129C>G	XP_011527113.1:p.Ser710Trp
XM_017027841.2:c.2156C>G	XP_016883330.1:p.Ser719Trp
XM_017027842.2:c.2093C>G	XP_016883331.1:p.Ser698Trp
XM_017027843.1:c.2090C>G	XP_016883332.1:p.Ser697Trp
XM_017027844.2:c.2048C>G	XP_016883333.1:p.Ser683Trp
XM_017027845.1:c.1121C>G	XP_016883334.1:p.Ser374Trp
NM_004518.6:c.2021C>G	NP_004509.2:p.Ser674Trp
NM_172106.3:c.2051C>G	NP_742104.1:p.Ser684Trp
NM_172107.4:c.2105C>G MANE Select	NP_742105.1:p.Ser702Trp
NM_172108.5:c.2012C>G	NP_742106.1:p.Ser671Trp
NM_001382235.1:c.2159C>G	NP_001369164.1:p.Ser720Trp