Canonical Allele Identifier: CA409638568

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038418A>C (hg19) ; chr20:g.63407065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407065A>C , CM000682.2:g.63407065A>C	GRCh38
NC_000020.10:g.62038418A>C , CM000682.1:g.62038418A>C	GRCh37
NC_000020.9:g.61508862A>C	NCBI36
NG_009004.1:g.70576T>G
NG_009004.2:g.70576T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2252T>G	ENSP00000516702.1:p.Val751Gly
ENST00000359125.7:c.2198T>G MANE Select	ENSP00000352035.2:p.Val733Gly
ENST00000637193.1:c.1595T>G	ENSP00000490734.1:p.Val532Gly
ENST00000344462.8:c.2105T>G	ENSP00000339611.4:p.Val702Gly
ENST00000357249.6:c.1766T>G	ENSP00000349789.3:p.Val589Gly
ENST00000359125.6:c.2198T>G	ENSP00000352035.2:p.Val733Gly
ENST00000360480.7:c.2114T>G	ENSP00000353668.3:p.Val705Gly
ENST00000370224.5:c.2222T>G	ENSP00000359244.2:p.Val741Gly
ENST00000625514.2:c.2186T>G	ENSP00000486040.1:p.Val729Gly
ENST00000626839.2:c.2144T>G	ENSP00000486706.1:p.Val715Gly
ENST00000629241.2:c.2114T>G	ENSP00000487142.1:p.Val705Gly
ENST00000629676.2:c.1680-6222T>G	ENSP00000486194.1:n.1680-6222T>G
NM_004518.4:c.2114T>G	NP_004509.2:p.Val705Gly
NM_172106.1:c.2144T>G	NP_742104.1:p.Val715Gly
NM_172107.2:c.2198T>G	NP_742105.1:p.Val733Gly
NM_172108.3:c.2105T>G	NP_742106.1:p.Val702Gly
XM_006723787.1:c.2240T>G	XP_006723850.1:p.Val747Gly
XM_011528807.1:c.2306T>G	XP_011527109.1:p.Val769Gly
XM_011528808.1:c.2303T>G	XP_011527110.1:p.Val768Gly
XM_011528809.1:c.2276T>G	XP_011527111.1:p.Val759Gly
XM_011528810.1:c.2252T>G	XP_011527112.1:p.Val751Gly
XM_011528811.1:c.2222T>G	XP_011527113.1:p.Val741Gly
XM_011528812.1:c.2195T>G	XP_011527114.1:p.Val732Gly
XM_011528813.1:c.2180T>G	XP_011527115.1:p.Val727Gly
XM_011528814.1:c.1787T>G	XP_011527116.1:p.Val596Gly
NM_004518.5:c.2114T>G	NP_004509.2:p.Val705Gly
NM_172106.2:c.2144T>G	NP_742104.1:p.Val715Gly
NM_172107.3:c.2198T>G	NP_742105.1:p.Val733Gly
NM_172108.4:c.2105T>G	NP_742106.1:p.Val702Gly
XM_011528810.2:c.2252T>G	XP_011527112.1:p.Val751Gly
XM_011528811.2:c.2222T>G	XP_011527113.1:p.Val741Gly
XM_017027841.2:c.2249T>G	XP_016883330.1:p.Val750Gly
XM_017027842.2:c.2186T>G	XP_016883331.1:p.Val729Gly
XM_017027843.1:c.2183T>G	XP_016883332.1:p.Val728Gly
XM_017027844.2:c.2141T>G	XP_016883333.1:p.Val714Gly
XM_017027845.1:c.1214T>G	XP_016883334.1:p.Val405Gly
NM_004518.6:c.2114T>G	NP_004509.2:p.Val705Gly
NM_172106.3:c.2144T>G	NP_742104.1:p.Val715Gly
NM_172107.4:c.2198T>G MANE Select	NP_742105.1:p.Val733Gly
NM_172108.5:c.2105T>G	NP_742106.1:p.Val702Gly
NM_001382235.1:c.2252T>G	NP_001369164.1:p.Val751Gly