Canonical Allele Identifier: CA409651318

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1066163
• ClinVar RCV Id: RCV001377088
• dbSNP Id: rs1057516104
• MyVariant Identifiers: chr20:g.62065258T>G (hg19) ; chr20:g.63433905T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63433905T>G , CM000682.2:g.63433905T>G	GRCh38
NC_000020.10:g.62065258T>G , CM000682.1:g.62065258T>G	GRCh37
NC_000020.9:g.61535702T>G	NCBI36
NG_009004.1:g.43736A>C
NG_009004.2:g.43736A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1024-2A>C	ENSP00000516702.1:n.1024-2A>C
ENST00000344425.8:c.1024-2A>C	ENSP00000345523.5:n.1024-2A>C
ENST00000359125.7:c.1024-2A>C MANE Select	ENSP00000352035.2:n.1024-2A>C
ENST00000636255.1:n.762-2A>C
ENST00000637193.1:c.505-2A>C	ENSP00000490734.1:n.505-2A>C
ENST00000344425.7:c.1024-2A>C	ENSP00000345523.5:n.1024-2A>C
ENST00000344462.8:c.1024-2A>C	ENSP00000339611.4:n.1024-2A>C
ENST00000357249.6:c.682-2A>C	ENSP00000349789.3:n.682-2A>C
ENST00000359125.6:c.1024-2A>C	ENSP00000352035.2:n.1024-2A>C
ENST00000360480.7:c.1024-2A>C	ENSP00000353668.3:n.1024-2A>C
ENST00000370221.3:n.1150-2A>C
ENST00000370224.5:c.1024-2A>C	ENSP00000359244.2:n.1024-2A>C
ENST00000482957.1:n.375-2A>C
ENST00000625514.2:c.1024-2A>C	ENSP00000486040.1:n.1024-2A>C
ENST00000626839.2:c.1024-2A>C	ENSP00000486706.1:n.1024-2A>C
ENST00000627221.2:c.168-2A>C
ENST00000629241.2:c.1024-2A>C	ENSP00000487142.1:n.1024-2A>C
ENST00000629498.2:c.497-2A>C	ENSP00000486509.1:n.497-2A>C
ENST00000629676.2:c.1024-2A>C	ENSP00000486194.1:n.1024-2A>C
NM_004518.4:c.1024-2A>C	NP_004509.2:n.1024-2A>C
NM_172106.1:c.1024-2A>C	NP_742104.1:n.1024-2A>C
NM_172107.2:c.1024-2A>C	NP_742105.1:n.1024-2A>C
NM_172108.3:c.1024-2A>C	NP_742106.1:n.1024-2A>C
NM_172109.1:c.1024-2A>C	NP_742107.1:n.1024-2A>C
XM_006723787.1:c.1024-2A>C	XP_006723850.1:n.1024-2A>C
XM_011528807.1:c.1024-2A>C	XP_011527109.1:n.1024-2A>C
XM_011528808.1:c.1024-2A>C	XP_011527110.1:n.1024-2A>C
XM_011528809.1:c.1024-2A>C	XP_011527111.1:n.1024-2A>C
XM_011528810.1:c.1024-2A>C	XP_011527112.1:n.1024-2A>C
XM_011528811.1:c.1024-2A>C	XP_011527113.1:n.1024-2A>C
XM_011528812.1:c.1024-2A>C	XP_011527114.1:n.1024-2A>C
XM_011528813.1:c.898-2A>C	XP_011527115.1:n.898-2A>C
XM_011528814.1:c.505-2A>C	XP_011527116.1:n.505-2A>C
XM_011528815.1:c.1024-2A>C	XP_011527117.1:n.1024-2A>C
NM_004518.5:c.1024-2A>C	NP_004509.2:n.1024-2A>C
NM_172106.2:c.1024-2A>C	NP_742104.1:n.1024-2A>C
NM_172107.3:c.1024-2A>C	NP_742105.1:n.1024-2A>C
NM_172108.4:c.1024-2A>C	NP_742106.1:n.1024-2A>C
NM_172109.2:c.1024-2A>C	NP_742107.1:n.1024-2A>C
XM_011528810.2:c.1024-2A>C	XP_011527112.1:n.1024-2A>C
XM_011528811.2:c.1024-2A>C	XP_011527113.1:n.1024-2A>C
XM_017027841.2:c.1024-2A>C	XP_016883330.1:n.1024-2A>C
XM_017027842.2:c.1024-2A>C	XP_016883331.1:n.1024-2A>C
XM_017027843.1:c.955-2A>C	XP_016883332.1:n.955-2A>C
XM_017027844.2:c.1024-2A>C	XP_016883333.1:n.1024-2A>C
NM_004518.6:c.1024-2A>C	NP_004509.2:n.1024-2A>C
NM_172106.3:c.1024-2A>C	NP_742104.1:n.1024-2A>C
NM_172107.4:c.1024-2A>C MANE Select	NP_742105.1:n.1024-2A>C
NM_172108.5:c.1024-2A>C	NP_742106.1:n.1024-2A>C
NM_172109.3:c.1024-2A>C	NP_742107.1:n.1024-2A>C
NM_001382235.1:c.1024-2A>C	NP_001369164.1:n.1024-2A>C