Canonical Allele Identifier: CA409637207

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038205C>T (hg19) ; chr20:g.63406852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406852C>T , CM000682.2:g.63406852C>T	GRCh38
NC_000020.10:g.62038205C>T , CM000682.1:g.62038205C>T	GRCh37
NC_000020.9:g.61508649C>T	NCBI36
NG_009004.1:g.70789G>A
NG_009004.2:g.70789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2465G>A	ENSP00000516702.1:p.Gly822Asp
ENST00000359125.7:c.2411G>A MANE Select	ENSP00000352035.2:p.Gly804Asp
ENST00000637193.1:c.1808G>A	ENSP00000490734.1:p.Gly603Asp
ENST00000344462.8:c.2318G>A	ENSP00000339611.4:p.Gly773Asp
ENST00000357249.6:c.1979G>A	ENSP00000349789.3:p.Gly660Asp
ENST00000359125.6:c.2411G>A	ENSP00000352035.2:p.Gly804Asp
ENST00000360480.7:c.2327G>A	ENSP00000353668.3:p.Gly776Asp
ENST00000370224.5:c.2241+194G>A	ENSP00000359244.2:n.2241+194G>A
ENST00000625514.2:c.2205+194G>A	ENSP00000486040.1:n.2205+194G>A
ENST00000626839.2:c.2357G>A	ENSP00000486706.1:p.Gly786Asp
ENST00000629241.2:c.2133+194G>A	ENSP00000487142.1:n.2133+194G>A
ENST00000629676.2:c.1680-6009G>A	ENSP00000486194.1:n.1680-6009G>A
NM_004518.4:c.2327G>A	NP_004509.2:p.Gly776Asp
NM_172106.1:c.2357G>A	NP_742104.1:p.Gly786Asp
NM_172107.2:c.2411G>A	NP_742105.1:p.Gly804Asp
NM_172108.3:c.2318G>A	NP_742106.1:p.Gly773Asp
XM_006723787.1:c.2453G>A	XP_006723850.1:p.Gly818Asp
XM_011528807.1:c.2519G>A	XP_011527109.1:p.Gly840Asp
XM_011528808.1:c.2516G>A	XP_011527110.1:p.Gly839Asp
XM_011528809.1:c.2489G>A	XP_011527111.1:p.Gly830Asp
XM_011528810.1:c.2465G>A	XP_011527112.1:p.Gly822Asp
XM_011528811.1:c.2435G>A	XP_011527113.1:p.Gly812Asp
XM_011528812.1:c.2408G>A	XP_011527114.1:p.Gly803Asp
XM_011528813.1:c.2393G>A	XP_011527115.1:p.Gly798Asp
XM_011528814.1:c.2000G>A	XP_011527116.1:p.Gly667Asp
NM_004518.5:c.2327G>A	NP_004509.2:p.Gly776Asp
NM_172106.2:c.2357G>A	NP_742104.1:p.Gly786Asp
NM_172107.3:c.2411G>A	NP_742105.1:p.Gly804Asp
NM_172108.4:c.2318G>A	NP_742106.1:p.Gly773Asp
XM_011528810.2:c.2465G>A	XP_011527112.1:p.Gly822Asp
XM_011528811.2:c.2435G>A	XP_011527113.1:p.Gly812Asp
XM_017027841.2:c.2462G>A	XP_016883330.1:p.Gly821Asp
XM_017027842.2:c.2399G>A	XP_016883331.1:p.Gly800Asp
XM_017027843.1:c.2396G>A	XP_016883332.1:p.Gly799Asp
XM_017027844.2:c.2354G>A	XP_016883333.1:p.Gly785Asp
XM_017027845.1:c.1427G>A	XP_016883334.1:p.Gly476Asp
NM_004518.6:c.2327G>A	NP_004509.2:p.Gly776Asp
NM_172106.3:c.2357G>A	NP_742104.1:p.Gly786Asp
NM_172107.4:c.2411G>A MANE Select	NP_742105.1:p.Gly804Asp
NM_172108.5:c.2318G>A	NP_742106.1:p.Gly773Asp
NM_001382235.1:c.2465G>A	NP_001369164.1:p.Gly822Asp