Canonical Allele Identifier: CA9958446

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 242009
• ClinVar RCV Id: RCV000830993 ; RCV001081684
• dbSNP Id: rs780293757
• ExAC: 20:62046275 C / T
• gnomAD v2: 20-62046275-C-T
• gnomAD v3: 20-63414922-C-T
• gnomAD v4: 20-63414922-C-T
• COSMIC: COSM193439 ; COSM5366153 ; COSM5366154
• MyVariant Identifiers: chr20:g.62046275C>T (hg19) ; chr20:g.63414922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414922C>T , CM000682.2:g.63414922C>T	GRCh38
NC_000020.10:g.62046275C>T , CM000682.1:g.62046275C>T	GRCh37
NC_000020.9:g.61516719C>T	NCBI36
NG_009004.1:g.62719G>A
NG_009004.2:g.62719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1452G>A	ENSP00000516702.1:p.Ala484=
ENST00000359125.7:c.1506G>A MANE Select	ENSP00000352035.2:p.Ala502=
ENST00000637193.1:c.903G>A	ENSP00000490734.1:p.Ala301=
ENST00000344462.8:c.1416G>A	ENSP00000339611.4:p.Ala472=
ENST00000357249.6:c.1074G>A	ENSP00000349789.3:p.Ala358=
ENST00000359125.6:c.1506G>A	ENSP00000352035.2:p.Ala502=
ENST00000360480.7:c.1422G>A	ENSP00000353668.3:p.Ala474=
ENST00000370224.5:c.1422G>A	ENSP00000359244.2:p.Ala474=
ENST00000625514.2:c.1386G>A	ENSP00000486040.1:p.Ala462=
ENST00000626839.2:c.1452G>A	ENSP00000486706.1:p.Ala484=
ENST00000627221.2:c.566G>A
ENST00000629241.2:c.1422G>A	ENSP00000487142.1:p.Ala474=
ENST00000629318.1:c.114G>A	ENSP00000487384.1:p.Ala38=
ENST00000629676.2:c.1422G>A	ENSP00000486194.1:p.Ala474=
NM_004518.4:c.1422G>A	NP_004509.2:p.Ala474=
NM_172106.1:c.1452G>A	NP_742104.1:p.Ala484=
NM_172107.2:c.1506G>A	NP_742105.1:p.Ala502=
NM_172108.3:c.1416G>A	NP_742106.1:p.Ala472=
XM_006723787.1:c.1506G>A	XP_006723850.1:p.Ala502=
XM_011528807.1:c.1506G>A	XP_011527109.1:p.Ala502=
XM_011528808.1:c.1506G>A	XP_011527110.1:p.Ala502=
XM_011528809.1:c.1476G>A	XP_011527111.1:p.Ala492=
XM_011528810.1:c.1452G>A	XP_011527112.1:p.Ala484=
XM_011528811.1:c.1422G>A	XP_011527113.1:p.Ala474=
XM_011528812.1:c.1506G>A	XP_011527114.1:p.Ala502=
XM_011528813.1:c.1380G>A	XP_011527115.1:p.Ala460=
XM_011528814.1:c.987G>A	XP_011527116.1:p.Ala329=
XM_011528815.1:c.1506G>A	XP_011527117.1:p.Ala502=
NM_004518.5:c.1422G>A	NP_004509.2:p.Ala474=
NM_172106.2:c.1452G>A	NP_742104.1:p.Ala484=
NM_172107.3:c.1506G>A	NP_742105.1:p.Ala502=
NM_172108.4:c.1416G>A	NP_742106.1:p.Ala472=
XM_011528810.2:c.1452G>A	XP_011527112.1:p.Ala484=
XM_011528811.2:c.1422G>A	XP_011527113.1:p.Ala474=
XM_017027841.2:c.1452G>A	XP_016883330.1:p.Ala484=
XM_017027842.2:c.1452G>A	XP_016883331.1:p.Ala484=
XM_017027843.1:c.1383G>A	XP_016883332.1:p.Ala461=
XM_017027844.2:c.1452G>A	XP_016883333.1:p.Ala484=
XM_017027845.1:c.414G>A	XP_016883334.1:p.Ala138=
NM_004518.6:c.1422G>A	NP_004509.2:p.Ala474=
NM_172106.3:c.1452G>A	NP_742104.1:p.Ala484=
NM_172107.4:c.1506G>A MANE Select	NP_742105.1:p.Ala502=
NM_172108.5:c.1416G>A	NP_742106.1:p.Ala472=
NM_001382235.1:c.1452G>A	NP_001369164.1:p.Ala484=