Canonical Allele Identifier: CA240975

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 129333
• ClinVar RCV Id: RCV000117336 ; RCV000230360 ; RCV001537812 ; RCV002313895 ; RCV003315307
• dbSNP Id: rs3746366
• ExAC: 20:62038352 T / C
• gnomAD v2: 20-62038352-T-C
• gnomAD v3: 20-63406999-T-C
• gnomAD v4: 20-63406999-T-C
• MyVariant Identifiers: chr20:g.62038352T>C (hg19) ; chr20:g.63406999T>C (hg38)
• PubMed: PMID:21685056

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406999T>C , CM000682.2:g.63406999T>C	GRCh38
NC_000020.10:g.62038352T>C , CM000682.1:g.62038352T>C	GRCh37
NC_000020.9:g.61508796T>C	NCBI36
NG_009004.1:g.70642A>G
NG_009004.2:g.70642A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2318A>G	ENSP00000516702.1:p.Tyr773Cys
ENST00000359125.7:c.2264A>G MANE Select	ENSP00000352035.2:p.Tyr755Cys
ENST00000637193.1:c.1661A>G	ENSP00000490734.1:p.Tyr554Cys
ENST00000344462.8:c.2171A>G	ENSP00000339611.4:p.Tyr724Cys
ENST00000357249.6:c.1832A>G	ENSP00000349789.3:p.Tyr611Cys
ENST00000359125.6:c.2264A>G	ENSP00000352035.2:p.Tyr755Cys
ENST00000360480.7:c.2180A>G	ENSP00000353668.3:p.Tyr727Cys
ENST00000370224.5:c.2241+47A>G	ENSP00000359244.2:n.2241+47A>G
ENST00000625514.2:c.2205+47A>G	ENSP00000486040.1:n.2205+47A>G
ENST00000626839.2:c.2210A>G	ENSP00000486706.1:p.Tyr737Cys
ENST00000629241.2:c.2133+47A>G	ENSP00000487142.1:n.2133+47A>G
ENST00000629676.2:c.1680-6156A>G	ENSP00000486194.1:n.1680-6156A>G
NM_004518.4:c.2180A>G	NP_004509.2:p.Tyr727Cys
NM_172106.1:c.2210A>G	NP_742104.1:p.Tyr737Cys
NM_172107.2:c.2264A>G	NP_742105.1:p.Tyr755Cys
NM_172108.3:c.2171A>G	NP_742106.1:p.Tyr724Cys
XM_006723787.1:c.2306A>G	XP_006723850.1:p.Tyr769Cys
XM_011528807.1:c.2372A>G	XP_011527109.1:p.Tyr791Cys
XM_011528808.1:c.2369A>G	XP_011527110.1:p.Tyr790Cys
XM_011528809.1:c.2342A>G	XP_011527111.1:p.Tyr781Cys
XM_011528810.1:c.2318A>G	XP_011527112.1:p.Tyr773Cys
XM_011528811.1:c.2288A>G	XP_011527113.1:p.Tyr763Cys
XM_011528812.1:c.2261A>G	XP_011527114.1:p.Tyr754Cys
XM_011528813.1:c.2246A>G	XP_011527115.1:p.Tyr749Cys
XM_011528814.1:c.1853A>G	XP_011527116.1:p.Tyr618Cys
NM_004518.5:c.2180A>G	NP_004509.2:p.Tyr727Cys
NM_172106.2:c.2210A>G	NP_742104.1:p.Tyr737Cys
NM_172107.3:c.2264A>G	NP_742105.1:p.Tyr755Cys
NM_172108.4:c.2171A>G	NP_742106.1:p.Tyr724Cys
XM_011528810.2:c.2318A>G	XP_011527112.1:p.Tyr773Cys
XM_011528811.2:c.2288A>G	XP_011527113.1:p.Tyr763Cys
XM_017027841.2:c.2315A>G	XP_016883330.1:p.Tyr772Cys
XM_017027842.2:c.2252A>G	XP_016883331.1:p.Tyr751Cys
XM_017027843.1:c.2249A>G	XP_016883332.1:p.Tyr750Cys
XM_017027844.2:c.2207A>G	XP_016883333.1:p.Tyr736Cys
XM_017027845.1:c.1280A>G	XP_016883334.1:p.Tyr427Cys
NM_004518.6:c.2180A>G	NP_004509.2:p.Tyr727Cys
NM_172106.3:c.2210A>G	NP_742104.1:p.Tyr737Cys
NM_172107.4:c.2264A>G MANE Select	NP_742105.1:p.Tyr755Cys
NM_172108.5:c.2171A>G	NP_742106.1:p.Tyr724Cys
NM_001382235.1:c.2318A>G	NP_001369164.1:p.Tyr773Cys