Canonical Allele Identifier: CA9958152

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 658483
• ClinVar RCV Id: RCV000815315
• dbSNP Id: rs1555850884
• ExAC: 20:62038511 G / A
• gnomAD v2: 20-62038511-G-A
• gnomAD v3: 20-63407158-G-A
• gnomAD v4: 20-63407158-G-A
• MyVariant Identifiers: chr20:g.62038511G>A (hg19) ; chr20:g.62038511_62038514delinsAAGA (hg19) ; chr20:g.63407158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407158G>A , CM000682.2:g.63407158G>A	GRCh38
NC_000020.10:g.62038511G>A , CM000682.1:g.62038511G>A	GRCh37
NC_000020.9:g.61508955G>A	NCBI36
NG_009004.1:g.70483C>T
NG_009004.2:g.70483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2159C>T	ENSP00000516702.1:p.Ser720Leu
ENST00000359125.7:c.2105C>T MANE Select	ENSP00000352035.2:p.Ser702Leu
ENST00000637193.1:c.1502C>T	ENSP00000490734.1:p.Ser501Leu
ENST00000344462.8:c.2012C>T	ENSP00000339611.4:p.Ser671Leu
ENST00000357249.6:c.1673C>T	ENSP00000349789.3:p.Ser558Leu
ENST00000359125.6:c.2105C>T	ENSP00000352035.2:p.Ser702Leu
ENST00000360480.7:c.2021C>T	ENSP00000353668.3:p.Ser674Leu
ENST00000370224.5:c.2129C>T	ENSP00000359244.2:p.Ser710Leu
ENST00000625514.2:c.2093C>T	ENSP00000486040.1:p.Ser698Leu
ENST00000626839.2:c.2051C>T	ENSP00000486706.1:p.Ser684Leu
ENST00000629241.2:c.2021C>T	ENSP00000487142.1:p.Ser674Leu
ENST00000629676.2:c.1679+6292C>T	ENSP00000486194.1:n.1679+6292C>T
NM_004518.4:c.2021C>T	NP_004509.2:p.Ser674Leu
NM_172106.1:c.2051C>T	NP_742104.1:p.Ser684Leu
NM_172107.2:c.2105C>T	NP_742105.1:p.Ser702Leu
NM_172108.3:c.2012C>T	NP_742106.1:p.Ser671Leu
XM_006723787.1:c.2147C>T	XP_006723850.1:p.Ser716Leu
XM_011528807.1:c.2213C>T	XP_011527109.1:p.Ser738Leu
XM_011528808.1:c.2210C>T	XP_011527110.1:p.Ser737Leu
XM_011528809.1:c.2183C>T	XP_011527111.1:p.Ser728Leu
XM_011528810.1:c.2159C>T	XP_011527112.1:p.Ser720Leu
XM_011528811.1:c.2129C>T	XP_011527113.1:p.Ser710Leu
XM_011528812.1:c.2102C>T	XP_011527114.1:p.Ser701Leu
XM_011528813.1:c.2087C>T	XP_011527115.1:p.Ser696Leu
XM_011528814.1:c.1694C>T	XP_011527116.1:p.Ser565Leu
NM_004518.5:c.2021C>T	NP_004509.2:p.Ser674Leu
NM_172106.2:c.2051C>T	NP_742104.1:p.Ser684Leu
NM_172107.3:c.2105C>T	NP_742105.1:p.Ser702Leu
NM_172108.4:c.2012C>T	NP_742106.1:p.Ser671Leu
XM_011528810.2:c.2159C>T	XP_011527112.1:p.Ser720Leu
XM_011528811.2:c.2129C>T	XP_011527113.1:p.Ser710Leu
XM_017027841.2:c.2156C>T	XP_016883330.1:p.Ser719Leu
XM_017027842.2:c.2093C>T	XP_016883331.1:p.Ser698Leu
XM_017027843.1:c.2090C>T	XP_016883332.1:p.Ser697Leu
XM_017027844.2:c.2048C>T	XP_016883333.1:p.Ser683Leu
XM_017027845.1:c.1121C>T	XP_016883334.1:p.Ser374Leu
NM_004518.6:c.2021C>T	NP_004509.2:p.Ser674Leu
NM_172106.3:c.2051C>T	NP_742104.1:p.Ser684Leu
NM_172107.4:c.2105C>T MANE Select	NP_742105.1:p.Ser702Leu
NM_172108.5:c.2012C>T	NP_742106.1:p.Ser671Leu
NM_001382235.1:c.2159C>T	NP_001369164.1:p.Ser720Leu