Canonical Allele Identifier: CA409638850

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407119-G-C
• MyVariant Identifiers: chr20:g.62038472G>C (hg19) ; chr20:g.63407119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407119G>C , CM000682.2:g.63407119G>C	GRCh38
NC_000020.10:g.62038472G>C , CM000682.1:g.62038472G>C	GRCh37
NC_000020.9:g.61508916G>C	NCBI36
NG_009004.1:g.70522C>G
NG_009004.2:g.70522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2198C>G	ENSP00000516702.1:p.Ser733Cys
ENST00000359125.7:c.2144C>G MANE Select	ENSP00000352035.2:p.Ser715Cys
ENST00000637193.1:c.1541C>G	ENSP00000490734.1:p.Ser514Cys
ENST00000344462.8:c.2051C>G	ENSP00000339611.4:p.Ser684Cys
ENST00000357249.6:c.1712C>G	ENSP00000349789.3:p.Ser571Cys
ENST00000359125.6:c.2144C>G	ENSP00000352035.2:p.Ser715Cys
ENST00000360480.7:c.2060C>G	ENSP00000353668.3:p.Ser687Cys
ENST00000370224.5:c.2168C>G	ENSP00000359244.2:p.Ser723Cys
ENST00000625514.2:c.2132C>G	ENSP00000486040.1:p.Ser711Cys
ENST00000626839.2:c.2090C>G	ENSP00000486706.1:p.Ser697Cys
ENST00000629241.2:c.2060C>G	ENSP00000487142.1:p.Ser687Cys
ENST00000629676.2:c.1680-6276C>G	ENSP00000486194.1:n.1680-6276C>G
NM_004518.4:c.2060C>G	NP_004509.2:p.Ser687Cys
NM_172106.1:c.2090C>G	NP_742104.1:p.Ser697Cys
NM_172107.2:c.2144C>G	NP_742105.1:p.Ser715Cys
NM_172108.3:c.2051C>G	NP_742106.1:p.Ser684Cys
XM_006723787.1:c.2186C>G	XP_006723850.1:p.Ser729Cys
XM_011528807.1:c.2252C>G	XP_011527109.1:p.Ser751Cys
XM_011528808.1:c.2249C>G	XP_011527110.1:p.Ser750Cys
XM_011528809.1:c.2222C>G	XP_011527111.1:p.Ser741Cys
XM_011528810.1:c.2198C>G	XP_011527112.1:p.Ser733Cys
XM_011528811.1:c.2168C>G	XP_011527113.1:p.Ser723Cys
XM_011528812.1:c.2141C>G	XP_011527114.1:p.Ser714Cys
XM_011528813.1:c.2126C>G	XP_011527115.1:p.Ser709Cys
XM_011528814.1:c.1733C>G	XP_011527116.1:p.Ser578Cys
NM_004518.5:c.2060C>G	NP_004509.2:p.Ser687Cys
NM_172106.2:c.2090C>G	NP_742104.1:p.Ser697Cys
NM_172107.3:c.2144C>G	NP_742105.1:p.Ser715Cys
NM_172108.4:c.2051C>G	NP_742106.1:p.Ser684Cys
XM_011528810.2:c.2198C>G	XP_011527112.1:p.Ser733Cys
XM_011528811.2:c.2168C>G	XP_011527113.1:p.Ser723Cys
XM_017027841.2:c.2195C>G	XP_016883330.1:p.Ser732Cys
XM_017027842.2:c.2132C>G	XP_016883331.1:p.Ser711Cys
XM_017027843.1:c.2129C>G	XP_016883332.1:p.Ser710Cys
XM_017027844.2:c.2087C>G	XP_016883333.1:p.Ser696Cys
XM_017027845.1:c.1160C>G	XP_016883334.1:p.Ser387Cys
NM_004518.6:c.2060C>G	NP_004509.2:p.Ser687Cys
NM_172106.3:c.2090C>G	NP_742104.1:p.Ser697Cys
NM_172107.4:c.2144C>G MANE Select	NP_742105.1:p.Ser715Cys
NM_172108.5:c.2051C>G	NP_742106.1:p.Ser684Cys
NM_001382235.1:c.2198C>G	NP_001369164.1:p.Ser733Cys