Canonical Allele Identifier: CA10588704

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 265380
• ClinVar RCV Id: RCV000255557 ; RCV000678196 ; RCV001222134
• dbSNP Id: rs118192236
• MyVariant Identifiers: chr20:g.62044825G>C (hg19) ; chr20:g.63413472G>C (hg38)
• PubMed: PMID:20437616 ; PMID:24107868

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413472G>C , CM000682.2:g.63413472G>C	GRCh38
NC_000020.10:g.62044825G>C , CM000682.1:g.62044825G>C	GRCh37
NC_000020.9:g.61515269G>C	NCBI36
NG_009004.1:g.64169C>G
NG_009004.2:g.64169C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1687C>G	ENSP00000516702.1:p.Arg563Gly
ENST00000359125.7:c.1741C>G MANE Select	ENSP00000352035.2:p.Arg581Gly
ENST00000637193.1:c.1138C>G	ENSP00000490734.1:p.Arg380Gly
ENST00000344462.8:c.1648C>G	ENSP00000339611.4:p.Arg550Gly
ENST00000357249.6:c.1309C>G	ENSP00000349789.3:p.Arg437Gly
ENST00000359125.6:c.1741C>G	ENSP00000352035.2:p.Arg581Gly
ENST00000360480.7:c.1657C>G	ENSP00000353668.3:p.Arg553Gly
ENST00000370224.5:c.1657C>G	ENSP00000359244.2:p.Arg553Gly
ENST00000625514.2:c.1621C>G	ENSP00000486040.1:p.Arg541Gly
ENST00000626839.2:c.1687C>G	ENSP00000486706.1:p.Arg563Gly
ENST00000629241.2:c.1657C>G	ENSP00000487142.1:p.Arg553Gly
ENST00000629318.1:c.349C>G	ENSP00000487384.1:p.Arg117Gly
ENST00000629676.2:c.1657C>G	ENSP00000486194.1:p.Arg553Gly
NM_004518.4:c.1657C>G	NP_004509.2:p.Arg553Gly
NM_172106.1:c.1687C>G	NP_742104.1:p.Arg563Gly
NM_172107.2:c.1741C>G	NP_742105.1:p.Arg581Gly
NM_172108.3:c.1648C>G	NP_742106.1:p.Arg550Gly
XM_006723787.1:c.1741C>G	XP_006723850.1:p.Arg581Gly
XM_011528807.1:c.1741C>G	XP_011527109.1:p.Arg581Gly
XM_011528808.1:c.1738C>G	XP_011527110.1:p.Arg580Gly
XM_011528809.1:c.1711C>G	XP_011527111.1:p.Arg571Gly
XM_011528810.1:c.1687C>G	XP_011527112.1:p.Arg563Gly
XM_011528811.1:c.1657C>G	XP_011527113.1:p.Arg553Gly
XM_011528812.1:c.1738C>G	XP_011527114.1:p.Arg580Gly
XM_011528813.1:c.1615C>G	XP_011527115.1:p.Arg539Gly
XM_011528814.1:c.1222C>G	XP_011527116.1:p.Arg408Gly
XM_011528815.1:c.1741C>G	XP_011527117.1:p.Arg581Gly
NM_004518.5:c.1657C>G	NP_004509.2:p.Arg553Gly
NM_172106.2:c.1687C>G	NP_742104.1:p.Arg563Gly
NM_172107.3:c.1741C>G	NP_742105.1:p.Arg581Gly
NM_172108.4:c.1648C>G	NP_742106.1:p.Arg550Gly
XM_011528810.2:c.1687C>G	XP_011527112.1:p.Arg563Gly
XM_011528811.2:c.1657C>G	XP_011527113.1:p.Arg553Gly
XM_017027841.2:c.1684C>G	XP_016883330.1:p.Arg562Gly
XM_017027842.2:c.1687C>G	XP_016883331.1:p.Arg563Gly
XM_017027843.1:c.1618C>G	XP_016883332.1:p.Arg540Gly
XM_017027844.2:c.1684C>G	XP_016883333.1:p.Arg562Gly
XM_017027845.1:c.649C>G	XP_016883334.1:p.Arg217Gly
NM_004518.6:c.1657C>G	NP_004509.2:p.Arg553Gly
NM_172106.3:c.1687C>G	NP_742104.1:p.Arg563Gly
NM_172107.4:c.1741C>G MANE Select	NP_742105.1:p.Arg581Gly
NM_172108.5:c.1648C>G	NP_742106.1:p.Arg550Gly
NM_001382235.1:c.1687C>G	NP_001369164.1:p.Arg563Gly