Canonical Allele Identifier: CA409637731

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038287G>C (hg19) ; chr20:g.63406934G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406934G>C , CM000682.2:g.63406934G>C	GRCh38
NC_000020.10:g.62038287G>C , CM000682.1:g.62038287G>C	GRCh37
NC_000020.9:g.61508731G>C	NCBI36
NG_009004.1:g.70707C>G
NG_009004.2:g.70707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2383C>G	ENSP00000516702.1:p.Pro795Ala
ENST00000359125.7:c.2329C>G MANE Select	ENSP00000352035.2:p.Pro777Ala
ENST00000637193.1:c.1726C>G	ENSP00000490734.1:p.Pro576Ala
ENST00000344462.8:c.2236C>G	ENSP00000339611.4:p.Pro746Ala
ENST00000357249.6:c.1897C>G	ENSP00000349789.3:p.Pro633Ala
ENST00000359125.6:c.2329C>G	ENSP00000352035.2:p.Pro777Ala
ENST00000360480.7:c.2245C>G	ENSP00000353668.3:p.Pro749Ala
ENST00000370224.5:c.2241+112C>G	ENSP00000359244.2:n.2241+112C>G
ENST00000625514.2:c.2205+112C>G	ENSP00000486040.1:n.2205+112C>G
ENST00000626839.2:c.2275C>G	ENSP00000486706.1:p.Pro759Ala
ENST00000629241.2:c.2133+112C>G	ENSP00000487142.1:n.2133+112C>G
ENST00000629676.2:c.1680-6091C>G	ENSP00000486194.1:n.1680-6091C>G
NM_004518.4:c.2245C>G	NP_004509.2:p.Pro749Ala
NM_172106.1:c.2275C>G	NP_742104.1:p.Pro759Ala
NM_172107.2:c.2329C>G	NP_742105.1:p.Pro777Ala
NM_172108.3:c.2236C>G	NP_742106.1:p.Pro746Ala
XM_006723787.1:c.2371C>G	XP_006723850.1:p.Pro791Ala
XM_011528807.1:c.2437C>G	XP_011527109.1:p.Pro813Ala
XM_011528808.1:c.2434C>G	XP_011527110.1:p.Pro812Ala
XM_011528809.1:c.2407C>G	XP_011527111.1:p.Pro803Ala
XM_011528810.1:c.2383C>G	XP_011527112.1:p.Pro795Ala
XM_011528811.1:c.2353C>G	XP_011527113.1:p.Pro785Ala
XM_011528812.1:c.2326C>G	XP_011527114.1:p.Pro776Ala
XM_011528813.1:c.2311C>G	XP_011527115.1:p.Pro771Ala
XM_011528814.1:c.1918C>G	XP_011527116.1:p.Pro640Ala
NM_004518.5:c.2245C>G	NP_004509.2:p.Pro749Ala
NM_172106.2:c.2275C>G	NP_742104.1:p.Pro759Ala
NM_172107.3:c.2329C>G	NP_742105.1:p.Pro777Ala
NM_172108.4:c.2236C>G	NP_742106.1:p.Pro746Ala
XM_011528810.2:c.2383C>G	XP_011527112.1:p.Pro795Ala
XM_011528811.2:c.2353C>G	XP_011527113.1:p.Pro785Ala
XM_017027841.2:c.2380C>G	XP_016883330.1:p.Pro794Ala
XM_017027842.2:c.2317C>G	XP_016883331.1:p.Pro773Ala
XM_017027843.1:c.2314C>G	XP_016883332.1:p.Pro772Ala
XM_017027844.2:c.2272C>G	XP_016883333.1:p.Pro758Ala
XM_017027845.1:c.1345C>G	XP_016883334.1:p.Pro449Ala
NM_004518.6:c.2245C>G	NP_004509.2:p.Pro749Ala
NM_172106.3:c.2275C>G	NP_742104.1:p.Pro759Ala
NM_172107.4:c.2329C>G MANE Select	NP_742105.1:p.Pro777Ala
NM_172108.5:c.2236C>G	NP_742106.1:p.Pro746Ala
NM_001382235.1:c.2383C>G	NP_001369164.1:p.Pro795Ala