Canonical Allele Identifier: CA9958466

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 999695
• ClinVar RCV Id: RCV001295719
• dbSNP Id: rs774027338
• ExAC: 20:62046429 G / A
• gnomAD v2: 20-62046429-G-A
• gnomAD v3: 20-63415076-G-A
• gnomAD v4: 20-63415076-G-A
• MyVariant Identifiers: chr20:g.62046429G>A (hg19) ; chr20:g.63415076G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415076G>A , CM000682.2:g.63415076G>A	GRCh38
NC_000020.10:g.62046429G>A , CM000682.1:g.62046429G>A	GRCh37
NC_000020.9:g.61516873G>A	NCBI36
NG_009004.1:g.62565C>T
NG_009004.2:g.62565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1298C>T	ENSP00000516702.1:p.Ala433Val
ENST00000359125.7:c.1352C>T MANE Select	ENSP00000352035.2:p.Ala451Val
ENST00000637193.1:c.749C>T	ENSP00000490734.1:p.Ala250Val
ENST00000637584.1:n.89C>T
ENST00000344462.8:c.1262C>T	ENSP00000339611.4:p.Ala421Val
ENST00000357249.6:c.920C>T	ENSP00000349789.3:p.Ala307Val
ENST00000359125.6:c.1352C>T	ENSP00000352035.2:p.Ala451Val
ENST00000360480.7:c.1268C>T	ENSP00000353668.3:p.Ala423Val
ENST00000370224.5:c.1268C>T	ENSP00000359244.2:p.Ala423Val
ENST00000625514.2:c.1232C>T	ENSP00000486040.1:p.Ala411Val
ENST00000626839.2:c.1298C>T	ENSP00000486706.1:p.Ala433Val
ENST00000627221.2:c.412C>T
ENST00000629241.2:c.1268C>T	ENSP00000487142.1:p.Ala423Val
ENST00000629676.2:c.1268C>T	ENSP00000486194.1:p.Ala423Val
NM_004518.4:c.1268C>T	NP_004509.2:p.Ala423Val
NM_172106.1:c.1298C>T	NP_742104.1:p.Ala433Val
NM_172107.2:c.1352C>T	NP_742105.1:p.Ala451Val
NM_172108.3:c.1262C>T	NP_742106.1:p.Ala421Val
XM_006723787.1:c.1352C>T	XP_006723850.1:p.Ala451Val
XM_011528807.1:c.1352C>T	XP_011527109.1:p.Ala451Val
XM_011528808.1:c.1352C>T	XP_011527110.1:p.Ala451Val
XM_011528809.1:c.1322C>T	XP_011527111.1:p.Ala441Val
XM_011528810.1:c.1298C>T	XP_011527112.1:p.Ala433Val
XM_011528811.1:c.1268C>T	XP_011527113.1:p.Ala423Val
XM_011528812.1:c.1352C>T	XP_011527114.1:p.Ala451Val
XM_011528813.1:c.1226C>T	XP_011527115.1:p.Ala409Val
XM_011528814.1:c.833C>T	XP_011527116.1:p.Ala278Val
XM_011528815.1:c.1352C>T	XP_011527117.1:p.Ala451Val
NM_004518.5:c.1268C>T	NP_004509.2:p.Ala423Val
NM_172106.2:c.1298C>T	NP_742104.1:p.Ala433Val
NM_172107.3:c.1352C>T	NP_742105.1:p.Ala451Val
NM_172108.4:c.1262C>T	NP_742106.1:p.Ala421Val
XM_011528810.2:c.1298C>T	XP_011527112.1:p.Ala433Val
XM_011528811.2:c.1268C>T	XP_011527113.1:p.Ala423Val
XM_017027841.2:c.1298C>T	XP_016883330.1:p.Ala433Val
XM_017027842.2:c.1298C>T	XP_016883331.1:p.Ala433Val
XM_017027843.1:c.1229C>T	XP_016883332.1:p.Ala410Val
XM_017027844.2:c.1298C>T	XP_016883333.1:p.Ala433Val
XM_017027845.1:c.260C>T	XP_016883334.1:p.Ala87Val
NM_004518.6:c.1268C>T	NP_004509.2:p.Ala423Val
NM_172106.3:c.1298C>T	NP_742104.1:p.Ala433Val
NM_172107.4:c.1352C>T MANE Select	NP_742105.1:p.Ala451Val
NM_172108.5:c.1262C>T	NP_742106.1:p.Ala421Val
NM_001382235.1:c.1298C>T	NP_001369164.1:p.Ala433Val