Canonical Allele Identifier: CA409637042

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1023639
• ClinVar RCV Id: RCV001323720
• dbSNP Id: rs796052660
• gnomAD v4: 20-63406817-C-A
• MyVariant Identifiers: chr20:g.62038170C>A (hg19) ; chr20:g.63406817C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406817C>A , CM000682.2:g.63406817C>A	GRCh38
NC_000020.10:g.62038170C>A , CM000682.1:g.62038170C>A	GRCh37
NC_000020.9:g.61508614C>A	NCBI36
NG_009004.1:g.70824G>T
NG_009004.2:g.70824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2500G>T	ENSP00000516702.1:p.Ala834Ser
ENST00000359125.7:c.2446G>T MANE Select	ENSP00000352035.2:p.Ala816Ser
ENST00000637193.1:c.1843G>T	ENSP00000490734.1:p.Ala615Ser
ENST00000344462.8:c.2353G>T	ENSP00000339611.4:p.Ala785Ser
ENST00000357249.6:c.2014G>T	ENSP00000349789.3:p.Ala672Ser
ENST00000359125.6:c.2446G>T	ENSP00000352035.2:p.Ala816Ser
ENST00000360480.7:c.2362G>T	ENSP00000353668.3:p.Ala788Ser
ENST00000370224.5:c.2241+229G>T	ENSP00000359244.2:n.2241+229G>T
ENST00000625514.2:c.2205+229G>T	ENSP00000486040.1:n.2205+229G>T
ENST00000626839.2:c.2392G>T	ENSP00000486706.1:p.Ala798Ser
ENST00000629241.2:c.2133+229G>T	ENSP00000487142.1:n.2133+229G>T
ENST00000629676.2:c.1680-5974G>T	ENSP00000486194.1:n.1680-5974G>T
NM_004518.4:c.2362G>T	NP_004509.2:p.Ala788Ser
NM_172106.1:c.2392G>T	NP_742104.1:p.Ala798Ser
NM_172107.2:c.2446G>T	NP_742105.1:p.Ala816Ser
NM_172108.3:c.2353G>T	NP_742106.1:p.Ala785Ser
XM_006723787.1:c.2488G>T	XP_006723850.1:p.Ala830Ser
XM_011528807.1:c.2554G>T	XP_011527109.1:p.Ala852Ser
XM_011528808.1:c.2551G>T	XP_011527110.1:p.Ala851Ser
XM_011528809.1:c.2524G>T	XP_011527111.1:p.Ala842Ser
XM_011528810.1:c.2500G>T	XP_011527112.1:p.Ala834Ser
XM_011528811.1:c.2470G>T	XP_011527113.1:p.Ala824Ser
XM_011528812.1:c.2443G>T	XP_011527114.1:p.Ala815Ser
XM_011528813.1:c.2428G>T	XP_011527115.1:p.Ala810Ser
XM_011528814.1:c.2035G>T	XP_011527116.1:p.Ala679Ser
NM_004518.5:c.2362G>T	NP_004509.2:p.Ala788Ser
NM_172106.2:c.2392G>T	NP_742104.1:p.Ala798Ser
NM_172107.3:c.2446G>T	NP_742105.1:p.Ala816Ser
NM_172108.4:c.2353G>T	NP_742106.1:p.Ala785Ser
XM_011528810.2:c.2500G>T	XP_011527112.1:p.Ala834Ser
XM_011528811.2:c.2470G>T	XP_011527113.1:p.Ala824Ser
XM_017027841.2:c.2497G>T	XP_016883330.1:p.Ala833Ser
XM_017027842.2:c.2434G>T	XP_016883331.1:p.Ala812Ser
XM_017027843.1:c.2431G>T	XP_016883332.1:p.Ala811Ser
XM_017027844.2:c.2389G>T	XP_016883333.1:p.Ala797Ser
XM_017027845.1:c.1462G>T	XP_016883334.1:p.Ala488Ser
NM_004518.6:c.2362G>T	NP_004509.2:p.Ala788Ser
NM_172106.3:c.2392G>T	NP_742104.1:p.Ala798Ser
NM_172107.4:c.2446G>T MANE Select	NP_742105.1:p.Ala816Ser
NM_172108.5:c.2353G>T	NP_742106.1:p.Ala785Ser
NM_001382235.1:c.2500G>T	NP_001369164.1:p.Ala834Ser