Canonical Allele Identifier: CA409651076

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2446488
• ClinVar RCV Id: RCV003159318
• MyVariant Identifiers: chr20:g.62065181C>G (hg19) ; chr20:g.63433828C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63433828C>G , CM000682.2:g.63433828C>G	GRCh38
NC_000020.10:g.62065181C>G , CM000682.1:g.62065181C>G	GRCh37
NC_000020.9:g.61535625C>G	NCBI36
NG_009004.1:g.43813G>C
NG_009004.2:g.43813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1099G>C	ENSP00000516702.1:p.Val367Leu
ENST00000344425.8:c.1099G>C	ENSP00000345523.5:p.Val367Leu
ENST00000359125.7:c.1099G>C MANE Select	ENSP00000352035.2:p.Val367Leu
ENST00000635864.1:n.14G>C
ENST00000636255.1:n.837G>C
ENST00000637193.1:c.580G>C	ENSP00000490734.1:p.Val194Leu
ENST00000637890.1:n.49G>C
ENST00000344425.7:c.1099G>C	ENSP00000345523.5:p.Val367Leu
ENST00000344462.8:c.1099G>C	ENSP00000339611.4:p.Val367Leu
ENST00000357249.6:c.757G>C	ENSP00000349789.3:p.Val253Leu
ENST00000359125.6:c.1099G>C	ENSP00000352035.2:p.Val367Leu
ENST00000360480.7:c.1099G>C	ENSP00000353668.3:p.Val367Leu
ENST00000370221.3:n.1225G>C
ENST00000370224.5:c.1099G>C	ENSP00000359244.2:p.Val367Leu
ENST00000482957.1:n.450G>C
ENST00000625514.2:c.1099G>C	ENSP00000486040.1:p.Val367Leu
ENST00000626839.2:c.1099G>C	ENSP00000486706.1:p.Val367Leu
ENST00000627221.2:c.243G>C
ENST00000629241.2:c.1099G>C	ENSP00000487142.1:p.Val367Leu
ENST00000629498.2:c.572G>C	ENSP00000486509.1:n.572G>C
ENST00000629676.2:c.1099G>C	ENSP00000486194.1:p.Val367Leu
NM_004518.4:c.1099G>C	NP_004509.2:p.Val367Leu
NM_172106.1:c.1099G>C	NP_742104.1:p.Val367Leu
NM_172107.2:c.1099G>C	NP_742105.1:p.Val367Leu
NM_172108.3:c.1099G>C	NP_742106.1:p.Val367Leu
NM_172109.1:c.1099G>C	NP_742107.1:p.Val367Leu
XM_006723787.1:c.1099G>C	XP_006723850.1:p.Val367Leu
XM_011528807.1:c.1099G>C	XP_011527109.1:p.Val367Leu
XM_011528808.1:c.1099G>C	XP_011527110.1:p.Val367Leu
XM_011528809.1:c.1099G>C	XP_011527111.1:p.Val367Leu
XM_011528810.1:c.1099G>C	XP_011527112.1:p.Val367Leu
XM_011528811.1:c.1099G>C	XP_011527113.1:p.Val367Leu
XM_011528812.1:c.1099G>C	XP_011527114.1:p.Val367Leu
XM_011528813.1:c.973G>C	XP_011527115.1:p.Val325Leu
XM_011528814.1:c.580G>C	XP_011527116.1:p.Val194Leu
XM_011528815.1:c.1099G>C	XP_011527117.1:p.Val367Leu
NM_004518.5:c.1099G>C	NP_004509.2:p.Val367Leu
NM_172106.2:c.1099G>C	NP_742104.1:p.Val367Leu
NM_172107.3:c.1099G>C	NP_742105.1:p.Val367Leu
NM_172108.4:c.1099G>C	NP_742106.1:p.Val367Leu
NM_172109.2:c.1099G>C	NP_742107.1:p.Val367Leu
XM_011528810.2:c.1099G>C	XP_011527112.1:p.Val367Leu
XM_011528811.2:c.1099G>C	XP_011527113.1:p.Val367Leu
XM_017027841.2:c.1099G>C	XP_016883330.1:p.Val367Leu
XM_017027842.2:c.1099G>C	XP_016883331.1:p.Val367Leu
XM_017027843.1:c.1030G>C	XP_016883332.1:p.Val344Leu
XM_017027844.2:c.1099G>C	XP_016883333.1:p.Val367Leu
NM_004518.6:c.1099G>C	NP_004509.2:p.Val367Leu
NM_172106.3:c.1099G>C	NP_742104.1:p.Val367Leu
NM_172107.4:c.1099G>C MANE Select	NP_742105.1:p.Val367Leu
NM_172108.5:c.1099G>C	NP_742106.1:p.Val367Leu
NM_172109.3:c.1099G>C	NP_742107.1:p.Val367Leu
NM_001382235.1:c.1099G>C	NP_001369164.1:p.Val367Leu