Canonical Allele Identifier: CA10654834

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 369742
• ClinVar RCV Id: RCV000678117 ; RCV003897825
• dbSNP Id: rs1057516077
• MyVariant Identifiers: chr20:g.62078146G>A (hg19) ; chr20:g.63446793G>A (hg38)
• PubMed: PMID:20437616 ; PMID:22926866

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63446793G>A , CM000682.2:g.63446793G>A	GRCh38
NC_000020.10:g.62078146G>A , CM000682.1:g.62078146G>A	GRCh37
NC_000020.9:g.61548590G>A	NCBI36
NG_009004.1:g.30848C>T
NG_009004.2:g.30848C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.341C>T	ENSP00000516702.1:p.Thr114Ile
ENST00000344425.8:c.341C>T	ENSP00000345523.5:p.Thr114Ile
ENST00000359125.7:c.341C>T MANE Select	ENSP00000352035.2:p.Thr114Ile
ENST00000636065.1:n.127C>T
ENST00000636255.1:n.79C>T
ENST00000636623.1:n.102C>T
ENST00000637133.1:n.114C>T
ENST00000637193.1:c.-179C>T	ENSP00000490734.1:n.-179C>T
ENST00000637772.1:n.74C>T
ENST00000637803.1:n.139C>T
ENST00000344425.7:c.341C>T	ENSP00000345523.5:p.Thr114Ile
ENST00000344462.8:c.341C>T	ENSP00000339611.4:p.Thr114Ile
ENST00000359125.6:c.341C>T	ENSP00000352035.2:p.Thr114Ile
ENST00000360480.7:c.341C>T	ENSP00000353668.3:p.Thr114Ile
ENST00000370221.3:n.467C>T
ENST00000370224.5:c.341C>T	ENSP00000359244.2:p.Thr114Ile
ENST00000625514.2:c.341C>T	ENSP00000486040.1:p.Thr114Ile
ENST00000626313.1:n.183C>T
ENST00000626839.2:c.341C>T	ENSP00000486706.1:p.Thr114Ile
ENST00000629241.2:c.341C>T	ENSP00000487142.1:p.Thr114Ile
ENST00000629676.2:c.341C>T	ENSP00000486194.1:p.Thr114Ile
NM_004518.4:c.341C>T	NP_004509.2:p.Thr114Ile
NM_172106.1:c.341C>T	NP_742104.1:p.Thr114Ile
NM_172107.2:c.341C>T	NP_742105.1:p.Thr114Ile
NM_172108.3:c.341C>T	NP_742106.1:p.Thr114Ile
NM_172109.1:c.341C>T	NP_742107.1:p.Thr114Ile
XM_006723787.1:c.341C>T	XP_006723850.1:p.Thr114Ile
XM_011528807.1:c.341C>T	XP_011527109.1:p.Thr114Ile
XM_011528808.1:c.341C>T	XP_011527110.1:p.Thr114Ile
XM_011528809.1:c.341C>T	XP_011527111.1:p.Thr114Ile
XM_011528810.1:c.341C>T	XP_011527112.1:p.Thr114Ile
XM_011528811.1:c.341C>T	XP_011527113.1:p.Thr114Ile
XM_011528812.1:c.341C>T	XP_011527114.1:p.Thr114Ile
XM_011528813.1:c.341C>T	XP_011527115.1:p.Thr114Ile
XM_011528815.1:c.341C>T	XP_011527117.1:p.Thr114Ile
XM_011528816.1:c.341C>T	XP_011527118.1:p.Thr114Ile
NM_004518.5:c.341C>T	NP_004509.2:p.Thr114Ile
NM_172106.2:c.341C>T	NP_742104.1:p.Thr114Ile
NM_172107.3:c.341C>T	NP_742105.1:p.Thr114Ile
NM_172108.4:c.341C>T	NP_742106.1:p.Thr114Ile
NM_172109.2:c.341C>T	NP_742107.1:p.Thr114Ile
XM_011528810.2:c.341C>T	XP_011527112.1:p.Thr114Ile
XM_011528811.2:c.341C>T	XP_011527113.1:p.Thr114Ile
XM_017027841.2:c.341C>T	XP_016883330.1:p.Thr114Ile
XM_017027842.2:c.341C>T	XP_016883331.1:p.Thr114Ile
XM_017027843.1:c.272C>T	XP_016883332.1:p.Thr91Ile
XM_017027844.2:c.341C>T	XP_016883333.1:p.Thr114Ile
NM_004518.6:c.341C>T	NP_004509.2:p.Thr114Ile
NM_172106.3:c.341C>T	NP_742104.1:p.Thr114Ile
NM_172107.4:c.341C>T MANE Select	NP_742105.1:p.Thr114Ile
NM_172108.5:c.341C>T	NP_742106.1:p.Thr114Ile
NM_172109.3:c.341C>T	NP_742107.1:p.Thr114Ile
NM_001382235.1:c.341C>T	NP_001369164.1:p.Thr114Ile