Canonical Allele Identifier: CA409637615

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2707774
• ClinVar RCV Id: RCV003589890
• MyVariant Identifiers: chr20:g.62038268T>C (hg19) ; chr20:g.63406915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406915T>C , CM000682.2:g.63406915T>C	GRCh38
NC_000020.10:g.62038268T>C , CM000682.1:g.62038268T>C	GRCh37
NC_000020.9:g.61508712T>C	NCBI36
NG_009004.1:g.70726A>G
NG_009004.2:g.70726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2402A>G	ENSP00000516702.1:p.Asp801Gly
ENST00000359125.7:c.2348A>G MANE Select	ENSP00000352035.2:p.Asp783Gly
ENST00000637193.1:c.1745A>G	ENSP00000490734.1:p.Asp582Gly
ENST00000344462.8:c.2255A>G	ENSP00000339611.4:p.Asp752Gly
ENST00000357249.6:c.1916A>G	ENSP00000349789.3:p.Asp639Gly
ENST00000359125.6:c.2348A>G	ENSP00000352035.2:p.Asp783Gly
ENST00000360480.7:c.2264A>G	ENSP00000353668.3:p.Asp755Gly
ENST00000370224.5:c.2241+131A>G	ENSP00000359244.2:n.2241+131A>G
ENST00000625514.2:c.2205+131A>G	ENSP00000486040.1:n.2205+131A>G
ENST00000626839.2:c.2294A>G	ENSP00000486706.1:p.Asp765Gly
ENST00000629241.2:c.2133+131A>G	ENSP00000487142.1:n.2133+131A>G
ENST00000629676.2:c.1680-6072A>G	ENSP00000486194.1:n.1680-6072A>G
NM_004518.4:c.2264A>G	NP_004509.2:p.Asp755Gly
NM_172106.1:c.2294A>G	NP_742104.1:p.Asp765Gly
NM_172107.2:c.2348A>G	NP_742105.1:p.Asp783Gly
NM_172108.3:c.2255A>G	NP_742106.1:p.Asp752Gly
XM_006723787.1:c.2390A>G	XP_006723850.1:p.Asp797Gly
XM_011528807.1:c.2456A>G	XP_011527109.1:p.Asp819Gly
XM_011528808.1:c.2453A>G	XP_011527110.1:p.Asp818Gly
XM_011528809.1:c.2426A>G	XP_011527111.1:p.Asp809Gly
XM_011528810.1:c.2402A>G	XP_011527112.1:p.Asp801Gly
XM_011528811.1:c.2372A>G	XP_011527113.1:p.Asp791Gly
XM_011528812.1:c.2345A>G	XP_011527114.1:p.Asp782Gly
XM_011528813.1:c.2330A>G	XP_011527115.1:p.Asp777Gly
XM_011528814.1:c.1937A>G	XP_011527116.1:p.Asp646Gly
NM_004518.5:c.2264A>G	NP_004509.2:p.Asp755Gly
NM_172106.2:c.2294A>G	NP_742104.1:p.Asp765Gly
NM_172107.3:c.2348A>G	NP_742105.1:p.Asp783Gly
NM_172108.4:c.2255A>G	NP_742106.1:p.Asp752Gly
XM_011528810.2:c.2402A>G	XP_011527112.1:p.Asp801Gly
XM_011528811.2:c.2372A>G	XP_011527113.1:p.Asp791Gly
XM_017027841.2:c.2399A>G	XP_016883330.1:p.Asp800Gly
XM_017027842.2:c.2336A>G	XP_016883331.1:p.Asp779Gly
XM_017027843.1:c.2333A>G	XP_016883332.1:p.Asp778Gly
XM_017027844.2:c.2291A>G	XP_016883333.1:p.Asp764Gly
XM_017027845.1:c.1364A>G	XP_016883334.1:p.Asp455Gly
NM_004518.6:c.2264A>G	NP_004509.2:p.Asp755Gly
NM_172106.3:c.2294A>G	NP_742104.1:p.Asp765Gly
NM_172107.4:c.2348A>G MANE Select	NP_742105.1:p.Asp783Gly
NM_172108.5:c.2255A>G	NP_742106.1:p.Asp752Gly
NM_001382235.1:c.2402A>G	NP_001369164.1:p.Asp801Gly