Canonical Allele Identifier: CA409639245

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038632T>A (hg19) ; chr20:g.63407279T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407279T>A , CM000682.2:g.63407279T>A	GRCh38
NC_000020.10:g.62038632T>A , CM000682.1:g.62038632T>A	GRCh37
NC_000020.9:g.61509076T>A	NCBI36
NG_009004.1:g.70362A>T
NG_009004.2:g.70362A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2038A>T	ENSP00000516702.1:p.Lys680Ter
ENST00000359125.7:c.1984A>T MANE Select	ENSP00000352035.2:p.Lys662Ter
ENST00000637193.1:c.1381A>T	ENSP00000490734.1:p.Lys461Ter
ENST00000344462.8:c.1891A>T	ENSP00000339611.4:p.Lys631Ter
ENST00000357249.6:c.1552A>T	ENSP00000349789.3:p.Lys518Ter
ENST00000359125.6:c.1984A>T	ENSP00000352035.2:p.Lys662Ter
ENST00000360480.7:c.1900A>T	ENSP00000353668.3:p.Lys634Ter
ENST00000370224.5:c.2008A>T	ENSP00000359244.2:p.Lys670Ter
ENST00000625514.2:c.1972A>T	ENSP00000486040.1:p.Lys658Ter
ENST00000626839.2:c.1930A>T	ENSP00000486706.1:p.Lys644Ter
ENST00000629241.2:c.1900A>T	ENSP00000487142.1:p.Lys634Ter
ENST00000629676.2:c.1679+6171A>T	ENSP00000486194.1:n.1679+6171A>T
NM_004518.4:c.1900A>T	NP_004509.2:p.Lys634Ter
NM_172106.1:c.1930A>T	NP_742104.1:p.Lys644Ter
NM_172107.2:c.1984A>T	NP_742105.1:p.Lys662Ter
NM_172108.3:c.1891A>T	NP_742106.1:p.Lys631Ter
XM_006723787.1:c.2026A>T	XP_006723850.1:p.Lys676Ter
XM_011528807.1:c.2092A>T	XP_011527109.1:p.Lys698Ter
XM_011528808.1:c.2089A>T	XP_011527110.1:p.Lys697Ter
XM_011528809.1:c.2062A>T	XP_011527111.1:p.Lys688Ter
XM_011528810.1:c.2038A>T	XP_011527112.1:p.Lys680Ter
XM_011528811.1:c.2008A>T	XP_011527113.1:p.Lys670Ter
XM_011528812.1:c.1981A>T	XP_011527114.1:p.Lys661Ter
XM_011528813.1:c.1966A>T	XP_011527115.1:p.Lys656Ter
XM_011528814.1:c.1573A>T	XP_011527116.1:p.Lys525Ter
NM_004518.5:c.1900A>T	NP_004509.2:p.Lys634Ter
NM_172106.2:c.1930A>T	NP_742104.1:p.Lys644Ter
NM_172107.3:c.1984A>T	NP_742105.1:p.Lys662Ter
NM_172108.4:c.1891A>T	NP_742106.1:p.Lys631Ter
XM_011528810.2:c.2038A>T	XP_011527112.1:p.Lys680Ter
XM_011528811.2:c.2008A>T	XP_011527113.1:p.Lys670Ter
XM_017027841.2:c.2035A>T	XP_016883330.1:p.Lys679Ter
XM_017027842.2:c.1972A>T	XP_016883331.1:p.Lys658Ter
XM_017027843.1:c.1969A>T	XP_016883332.1:p.Lys657Ter
XM_017027844.2:c.1927A>T	XP_016883333.1:p.Lys643Ter
XM_017027845.1:c.1000A>T	XP_016883334.1:p.Lys334Ter
NM_004518.6:c.1900A>T	NP_004509.2:p.Lys634Ter
NM_172106.3:c.1930A>T	NP_742104.1:p.Lys644Ter
NM_172107.4:c.1984A>T MANE Select	NP_742105.1:p.Lys662Ter
NM_172108.5:c.1891A>T	NP_742106.1:p.Lys631Ter
NM_001382235.1:c.2038A>T	NP_001369164.1:p.Lys680Ter