Canonical Allele Identifier: CA409639129

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2750950
• ClinVar RCV Id: RCV003589469
• MyVariant Identifiers: chr20:g.62038579A>C (hg19) ; chr20:g.63407226A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407226A>C , CM000682.2:g.63407226A>C	GRCh38
NC_000020.10:g.62038579A>C , CM000682.1:g.62038579A>C	GRCh37
NC_000020.9:g.61509023A>C	NCBI36
NG_009004.1:g.70415T>G
NG_009004.2:g.70415T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2091T>G	ENSP00000516702.1:p.His697Gln
ENST00000359125.7:c.2037T>G MANE Select	ENSP00000352035.2:p.His679Gln
ENST00000637193.1:c.1434T>G	ENSP00000490734.1:p.His478Gln
ENST00000344462.8:c.1944T>G	ENSP00000339611.4:p.His648Gln
ENST00000357249.6:c.1605T>G	ENSP00000349789.3:p.His535Gln
ENST00000359125.6:c.2037T>G	ENSP00000352035.2:p.His679Gln
ENST00000360480.7:c.1953T>G	ENSP00000353668.3:p.His651Gln
ENST00000370224.5:c.2061T>G	ENSP00000359244.2:p.His687Gln
ENST00000625514.2:c.2025T>G	ENSP00000486040.1:p.His675Gln
ENST00000626839.2:c.1983T>G	ENSP00000486706.1:p.His661Gln
ENST00000629241.2:c.1953T>G	ENSP00000487142.1:p.His651Gln
ENST00000629676.2:c.1679+6224T>G	ENSP00000486194.1:n.1679+6224T>G
NM_004518.4:c.1953T>G	NP_004509.2:p.His651Gln
NM_172106.1:c.1983T>G	NP_742104.1:p.His661Gln
NM_172107.2:c.2037T>G	NP_742105.1:p.His679Gln
NM_172108.3:c.1944T>G	NP_742106.1:p.His648Gln
XM_006723787.1:c.2079T>G	XP_006723850.1:p.His693Gln
XM_011528807.1:c.2145T>G	XP_011527109.1:p.His715Gln
XM_011528808.1:c.2142T>G	XP_011527110.1:p.His714Gln
XM_011528809.1:c.2115T>G	XP_011527111.1:p.His705Gln
XM_011528810.1:c.2091T>G	XP_011527112.1:p.His697Gln
XM_011528811.1:c.2061T>G	XP_011527113.1:p.His687Gln
XM_011528812.1:c.2034T>G	XP_011527114.1:p.His678Gln
XM_011528813.1:c.2019T>G	XP_011527115.1:p.His673Gln
XM_011528814.1:c.1626T>G	XP_011527116.1:p.His542Gln
NM_004518.5:c.1953T>G	NP_004509.2:p.His651Gln
NM_172106.2:c.1983T>G	NP_742104.1:p.His661Gln
NM_172107.3:c.2037T>G	NP_742105.1:p.His679Gln
NM_172108.4:c.1944T>G	NP_742106.1:p.His648Gln
XM_011528810.2:c.2091T>G	XP_011527112.1:p.His697Gln
XM_011528811.2:c.2061T>G	XP_011527113.1:p.His687Gln
XM_017027841.2:c.2088T>G	XP_016883330.1:p.His696Gln
XM_017027842.2:c.2025T>G	XP_016883331.1:p.His675Gln
XM_017027843.1:c.2022T>G	XP_016883332.1:p.His674Gln
XM_017027844.2:c.1980T>G	XP_016883333.1:p.His660Gln
XM_017027845.1:c.1053T>G	XP_016883334.1:p.His351Gln
NM_004518.6:c.1953T>G	NP_004509.2:p.His651Gln
NM_172106.3:c.1983T>G	NP_742104.1:p.His661Gln
NM_172107.4:c.2037T>G MANE Select	NP_742105.1:p.His679Gln
NM_172108.5:c.1944T>G	NP_742106.1:p.His648Gln
NM_001382235.1:c.2091T>G	NP_001369164.1:p.His697Gln