Canonical Allele Identifier: CA409639019

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1514658
• ClinVar RCV Id: RCV002029459
• dbSNP Id: rs1319597206
• gnomAD v2: 20-62038527-C-T
• gnomAD v3: 20-63407174-C-T
• gnomAD v4: 20-63407174-C-T
• MyVariant Identifiers: chr20:g.62038527C>T (hg19) ; chr20:g.63407174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407174C>T , CM000682.2:g.63407174C>T	GRCh38
NC_000020.10:g.62038527C>T , CM000682.1:g.62038527C>T	GRCh37
NC_000020.9:g.61508971C>T	NCBI36
NG_009004.1:g.70467G>A
NG_009004.2:g.70467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2143G>A	ENSP00000516702.1:p.Gly715Ser
ENST00000359125.7:c.2089G>A MANE Select	ENSP00000352035.2:p.Gly697Ser
ENST00000637193.1:c.1486G>A	ENSP00000490734.1:p.Gly496Ser
ENST00000344462.8:c.1996G>A	ENSP00000339611.4:p.Gly666Ser
ENST00000357249.6:c.1657G>A	ENSP00000349789.3:p.Gly553Ser
ENST00000359125.6:c.2089G>A	ENSP00000352035.2:p.Gly697Ser
ENST00000360480.7:c.2005G>A	ENSP00000353668.3:p.Gly669Ser
ENST00000370224.5:c.2113G>A	ENSP00000359244.2:p.Gly705Ser
ENST00000625514.2:c.2077G>A	ENSP00000486040.1:p.Gly693Ser
ENST00000626839.2:c.2035G>A	ENSP00000486706.1:p.Gly679Ser
ENST00000629241.2:c.2005G>A	ENSP00000487142.1:p.Gly669Ser
ENST00000629676.2:c.1679+6276G>A	ENSP00000486194.1:n.1679+6276G>A
NM_004518.4:c.2005G>A	NP_004509.2:p.Gly669Ser
NM_172106.1:c.2035G>A	NP_742104.1:p.Gly679Ser
NM_172107.2:c.2089G>A	NP_742105.1:p.Gly697Ser
NM_172108.3:c.1996G>A	NP_742106.1:p.Gly666Ser
XM_006723787.1:c.2131G>A	XP_006723850.1:p.Gly711Ser
XM_011528807.1:c.2197G>A	XP_011527109.1:p.Gly733Ser
XM_011528808.1:c.2194G>A	XP_011527110.1:p.Gly732Ser
XM_011528809.1:c.2167G>A	XP_011527111.1:p.Gly723Ser
XM_011528810.1:c.2143G>A	XP_011527112.1:p.Gly715Ser
XM_011528811.1:c.2113G>A	XP_011527113.1:p.Gly705Ser
XM_011528812.1:c.2086G>A	XP_011527114.1:p.Gly696Ser
XM_011528813.1:c.2071G>A	XP_011527115.1:p.Gly691Ser
XM_011528814.1:c.1678G>A	XP_011527116.1:p.Gly560Ser
NM_004518.5:c.2005G>A	NP_004509.2:p.Gly669Ser
NM_172106.2:c.2035G>A	NP_742104.1:p.Gly679Ser
NM_172107.3:c.2089G>A	NP_742105.1:p.Gly697Ser
NM_172108.4:c.1996G>A	NP_742106.1:p.Gly666Ser
XM_011528810.2:c.2143G>A	XP_011527112.1:p.Gly715Ser
XM_011528811.2:c.2113G>A	XP_011527113.1:p.Gly705Ser
XM_017027841.2:c.2140G>A	XP_016883330.1:p.Gly714Ser
XM_017027842.2:c.2077G>A	XP_016883331.1:p.Gly693Ser
XM_017027843.1:c.2074G>A	XP_016883332.1:p.Gly692Ser
XM_017027844.2:c.2032G>A	XP_016883333.1:p.Gly678Ser
XM_017027845.1:c.1105G>A	XP_016883334.1:p.Gly369Ser
NM_004518.6:c.2005G>A	NP_004509.2:p.Gly669Ser
NM_172106.3:c.2035G>A	NP_742104.1:p.Gly679Ser
NM_172107.4:c.2089G>A MANE Select	NP_742105.1:p.Gly697Ser
NM_172108.5:c.1996G>A	NP_742106.1:p.Gly666Ser
NM_001382235.1:c.2143G>A	NP_001369164.1:p.Gly715Ser