Canonical Allele Identifier: CA9958151

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1434142
• ClinVar RCV Id: RCV001946257 ; RCV002423096 ; RCV003447609
• dbSNP Id: rs779430808
• ExAC: 20:62038508 G / A
• gnomAD v2: 20-62038508-G-A
• gnomAD v3: 20-63407155-G-A
• gnomAD v4: 20-63407155-G-A
• MyVariant Identifiers: chr20:g.62038508G>A (hg19) ; chr20:g.63407155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407155G>A , CM000682.2:g.63407155G>A	GRCh38
NC_000020.10:g.62038508G>A , CM000682.1:g.62038508G>A	GRCh37
NC_000020.9:g.61508952G>A	NCBI36
NG_009004.1:g.70486C>T
NG_009004.2:g.70486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2162C>T	ENSP00000516702.1:p.Ala721Val
ENST00000359125.7:c.2108C>T MANE Select	ENSP00000352035.2:p.Ala703Val
ENST00000637193.1:c.1505C>T	ENSP00000490734.1:p.Ala502Val
ENST00000344462.8:c.2015C>T	ENSP00000339611.4:p.Ala672Val
ENST00000357249.6:c.1676C>T	ENSP00000349789.3:p.Ala559Val
ENST00000359125.6:c.2108C>T	ENSP00000352035.2:p.Ala703Val
ENST00000360480.7:c.2024C>T	ENSP00000353668.3:p.Ala675Val
ENST00000370224.5:c.2132C>T	ENSP00000359244.2:p.Ala711Val
ENST00000625514.2:c.2096C>T	ENSP00000486040.1:p.Ala699Val
ENST00000626839.2:c.2054C>T	ENSP00000486706.1:p.Ala685Val
ENST00000629241.2:c.2024C>T	ENSP00000487142.1:p.Ala675Val
ENST00000629676.2:c.1679+6295C>T	ENSP00000486194.1:n.1679+6295C>T
NM_004518.4:c.2024C>T	NP_004509.2:p.Ala675Val
NM_172106.1:c.2054C>T	NP_742104.1:p.Ala685Val
NM_172107.2:c.2108C>T	NP_742105.1:p.Ala703Val
NM_172108.3:c.2015C>T	NP_742106.1:p.Ala672Val
XM_006723787.1:c.2150C>T	XP_006723850.1:p.Ala717Val
XM_011528807.1:c.2216C>T	XP_011527109.1:p.Ala739Val
XM_011528808.1:c.2213C>T	XP_011527110.1:p.Ala738Val
XM_011528809.1:c.2186C>T	XP_011527111.1:p.Ala729Val
XM_011528810.1:c.2162C>T	XP_011527112.1:p.Ala721Val
XM_011528811.1:c.2132C>T	XP_011527113.1:p.Ala711Val
XM_011528812.1:c.2105C>T	XP_011527114.1:p.Ala702Val
XM_011528813.1:c.2090C>T	XP_011527115.1:p.Ala697Val
XM_011528814.1:c.1697C>T	XP_011527116.1:p.Ala566Val
NM_004518.5:c.2024C>T	NP_004509.2:p.Ala675Val
NM_172106.2:c.2054C>T	NP_742104.1:p.Ala685Val
NM_172107.3:c.2108C>T	NP_742105.1:p.Ala703Val
NM_172108.4:c.2015C>T	NP_742106.1:p.Ala672Val
XM_011528810.2:c.2162C>T	XP_011527112.1:p.Ala721Val
XM_011528811.2:c.2132C>T	XP_011527113.1:p.Ala711Val
XM_017027841.2:c.2159C>T	XP_016883330.1:p.Ala720Val
XM_017027842.2:c.2096C>T	XP_016883331.1:p.Ala699Val
XM_017027843.1:c.2093C>T	XP_016883332.1:p.Ala698Val
XM_017027844.2:c.2051C>T	XP_016883333.1:p.Ala684Val
XM_017027845.1:c.1124C>T	XP_016883334.1:p.Ala375Val
NM_004518.6:c.2024C>T	NP_004509.2:p.Ala675Val
NM_172106.3:c.2054C>T	NP_742104.1:p.Ala685Val
NM_172107.4:c.2108C>T MANE Select	NP_742105.1:p.Ala703Val
NM_172108.5:c.2015C>T	NP_742106.1:p.Ala672Val
NM_001382235.1:c.2162C>T	NP_001369164.1:p.Ala721Val