Canonical Allele Identifier: CA9958116

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 339329
• ClinVar RCV Id: RCV000535769 ; RCV001542406 ; RCV003315337
• dbSNP Id: rs774002673
• ExAC: 20:62038364 G / A
• gnomAD v2: 20-62038364-G-A
• gnomAD v3: 20-63407011-G-A
• gnomAD v4: 20-63407011-G-A
• MyVariant Identifiers: chr20:g.62038364G>A (hg19) ; chr20:g.63407011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407011G>A , CM000682.2:g.63407011G>A	GRCh38
NC_000020.10:g.62038364G>A , CM000682.1:g.62038364G>A	GRCh37
NC_000020.9:g.61508808G>A	NCBI36
NG_009004.1:g.70630C>T
NG_009004.2:g.70630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2306C>T	ENSP00000516702.1:p.Ser769Leu
ENST00000359125.7:c.2252C>T MANE Select	ENSP00000352035.2:p.Ser751Leu
ENST00000637193.1:c.1649C>T	ENSP00000490734.1:p.Ser550Leu
ENST00000344462.8:c.2159C>T	ENSP00000339611.4:p.Ser720Leu
ENST00000357249.6:c.1820C>T	ENSP00000349789.3:p.Ser607Leu
ENST00000359125.6:c.2252C>T	ENSP00000352035.2:p.Ser751Leu
ENST00000360480.7:c.2168C>T	ENSP00000353668.3:p.Ser723Leu
ENST00000370224.5:c.2241+35C>T	ENSP00000359244.2:n.2241+35C>T
ENST00000625514.2:c.2205+35C>T	ENSP00000486040.1:n.2205+35C>T
ENST00000626839.2:c.2198C>T	ENSP00000486706.1:p.Ser733Leu
ENST00000629241.2:c.2133+35C>T	ENSP00000487142.1:n.2133+35C>T
ENST00000629676.2:c.1680-6168C>T	ENSP00000486194.1:n.1680-6168C>T
NM_004518.4:c.2168C>T	NP_004509.2:p.Ser723Leu
NM_172106.1:c.2198C>T	NP_742104.1:p.Ser733Leu
NM_172107.2:c.2252C>T	NP_742105.1:p.Ser751Leu
NM_172108.3:c.2159C>T	NP_742106.1:p.Ser720Leu
XM_006723787.1:c.2294C>T	XP_006723850.1:p.Ser765Leu
XM_011528807.1:c.2360C>T	XP_011527109.1:p.Ser787Leu
XM_011528808.1:c.2357C>T	XP_011527110.1:p.Ser786Leu
XM_011528809.1:c.2330C>T	XP_011527111.1:p.Ser777Leu
XM_011528810.1:c.2306C>T	XP_011527112.1:p.Ser769Leu
XM_011528811.1:c.2276C>T	XP_011527113.1:p.Ser759Leu
XM_011528812.1:c.2249C>T	XP_011527114.1:p.Ser750Leu
XM_011528813.1:c.2234C>T	XP_011527115.1:p.Ser745Leu
XM_011528814.1:c.1841C>T	XP_011527116.1:p.Ser614Leu
NM_004518.5:c.2168C>T	NP_004509.2:p.Ser723Leu
NM_172106.2:c.2198C>T	NP_742104.1:p.Ser733Leu
NM_172107.3:c.2252C>T	NP_742105.1:p.Ser751Leu
NM_172108.4:c.2159C>T	NP_742106.1:p.Ser720Leu
XM_011528810.2:c.2306C>T	XP_011527112.1:p.Ser769Leu
XM_011528811.2:c.2276C>T	XP_011527113.1:p.Ser759Leu
XM_017027841.2:c.2303C>T	XP_016883330.1:p.Ser768Leu
XM_017027842.2:c.2240C>T	XP_016883331.1:p.Ser747Leu
XM_017027843.1:c.2237C>T	XP_016883332.1:p.Ser746Leu
XM_017027844.2:c.2195C>T	XP_016883333.1:p.Ser732Leu
XM_017027845.1:c.1268C>T	XP_016883334.1:p.Ser423Leu
NM_004518.6:c.2168C>T	NP_004509.2:p.Ser723Leu
NM_172106.3:c.2198C>T	NP_742104.1:p.Ser733Leu
NM_172107.4:c.2252C>T MANE Select	NP_742105.1:p.Ser751Leu
NM_172108.5:c.2159C>T	NP_742106.1:p.Ser720Leu
NM_001382235.1:c.2306C>T	NP_001369164.1:p.Ser769Leu