Canonical Allele Identifier: CA409639228

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038623C>T (hg19) ; chr20:g.63407270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407270C>T , CM000682.2:g.63407270C>T	GRCh38
NC_000020.10:g.62038623C>T , CM000682.1:g.62038623C>T	GRCh37
NC_000020.9:g.61509067C>T	NCBI36
NG_009004.1:g.70371G>A
NG_009004.2:g.70371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2047G>A	ENSP00000516702.1:p.Glu683Lys
ENST00000359125.7:c.1993G>A MANE Select	ENSP00000352035.2:p.Glu665Lys
ENST00000637193.1:c.1390G>A	ENSP00000490734.1:p.Glu464Lys
ENST00000344462.8:c.1900G>A	ENSP00000339611.4:p.Glu634Lys
ENST00000357249.6:c.1561G>A	ENSP00000349789.3:p.Glu521Lys
ENST00000359125.6:c.1993G>A	ENSP00000352035.2:p.Glu665Lys
ENST00000360480.7:c.1909G>A	ENSP00000353668.3:p.Glu637Lys
ENST00000370224.5:c.2017G>A	ENSP00000359244.2:p.Glu673Lys
ENST00000625514.2:c.1981G>A	ENSP00000486040.1:p.Glu661Lys
ENST00000626839.2:c.1939G>A	ENSP00000486706.1:p.Glu647Lys
ENST00000629241.2:c.1909G>A	ENSP00000487142.1:p.Glu637Lys
ENST00000629676.2:c.1679+6180G>A	ENSP00000486194.1:n.1679+6180G>A
NM_004518.4:c.1909G>A	NP_004509.2:p.Glu637Lys
NM_172106.1:c.1939G>A	NP_742104.1:p.Glu647Lys
NM_172107.2:c.1993G>A	NP_742105.1:p.Glu665Lys
NM_172108.3:c.1900G>A	NP_742106.1:p.Glu634Lys
XM_006723787.1:c.2035G>A	XP_006723850.1:p.Glu679Lys
XM_011528807.1:c.2101G>A	XP_011527109.1:p.Glu701Lys
XM_011528808.1:c.2098G>A	XP_011527110.1:p.Glu700Lys
XM_011528809.1:c.2071G>A	XP_011527111.1:p.Glu691Lys
XM_011528810.1:c.2047G>A	XP_011527112.1:p.Glu683Lys
XM_011528811.1:c.2017G>A	XP_011527113.1:p.Glu673Lys
XM_011528812.1:c.1990G>A	XP_011527114.1:p.Glu664Lys
XM_011528813.1:c.1975G>A	XP_011527115.1:p.Glu659Lys
XM_011528814.1:c.1582G>A	XP_011527116.1:p.Glu528Lys
NM_004518.5:c.1909G>A	NP_004509.2:p.Glu637Lys
NM_172106.2:c.1939G>A	NP_742104.1:p.Glu647Lys
NM_172107.3:c.1993G>A	NP_742105.1:p.Glu665Lys
NM_172108.4:c.1900G>A	NP_742106.1:p.Glu634Lys
XM_011528810.2:c.2047G>A	XP_011527112.1:p.Glu683Lys
XM_011528811.2:c.2017G>A	XP_011527113.1:p.Glu673Lys
XM_017027841.2:c.2044G>A	XP_016883330.1:p.Glu682Lys
XM_017027842.2:c.1981G>A	XP_016883331.1:p.Glu661Lys
XM_017027843.1:c.1978G>A	XP_016883332.1:p.Glu660Lys
XM_017027844.2:c.1936G>A	XP_016883333.1:p.Glu646Lys
XM_017027845.1:c.1009G>A	XP_016883334.1:p.Glu337Lys
NM_004518.6:c.1909G>A	NP_004509.2:p.Glu637Lys
NM_172106.3:c.1939G>A	NP_742104.1:p.Glu647Lys
NM_172107.4:c.1993G>A MANE Select	NP_742105.1:p.Glu665Lys
NM_172108.5:c.1900G>A	NP_742106.1:p.Glu634Lys
NM_001382235.1:c.2047G>A	NP_001369164.1:p.Glu683Lys