Canonical Allele Identifier: CA409638879

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038480A>C (hg19) ; chr20:g.63407127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407127A>C , CM000682.2:g.63407127A>C	GRCh38
NC_000020.10:g.62038480A>C , CM000682.1:g.62038480A>C	GRCh37
NC_000020.9:g.61508924A>C	NCBI36
NG_009004.1:g.70514T>G
NG_009004.2:g.70514T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2190T>G	ENSP00000516702.1:p.Cys730Trp
ENST00000359125.7:c.2136T>G MANE Select	ENSP00000352035.2:p.Cys712Trp
ENST00000637193.1:c.1533T>G	ENSP00000490734.1:p.Cys511Trp
ENST00000344462.8:c.2043T>G	ENSP00000339611.4:p.Cys681Trp
ENST00000357249.6:c.1704T>G	ENSP00000349789.3:p.Cys568Trp
ENST00000359125.6:c.2136T>G	ENSP00000352035.2:p.Cys712Trp
ENST00000360480.7:c.2052T>G	ENSP00000353668.3:p.Cys684Trp
ENST00000370224.5:c.2160T>G	ENSP00000359244.2:p.Cys720Trp
ENST00000625514.2:c.2124T>G	ENSP00000486040.1:p.Cys708Trp
ENST00000626839.2:c.2082T>G	ENSP00000486706.1:p.Cys694Trp
ENST00000629241.2:c.2052T>G	ENSP00000487142.1:p.Cys684Trp
ENST00000629676.2:c.1680-6284T>G	ENSP00000486194.1:n.1680-6284T>G
NM_004518.4:c.2052T>G	NP_004509.2:p.Cys684Trp
NM_172106.1:c.2082T>G	NP_742104.1:p.Cys694Trp
NM_172107.2:c.2136T>G	NP_742105.1:p.Cys712Trp
NM_172108.3:c.2043T>G	NP_742106.1:p.Cys681Trp
XM_006723787.1:c.2178T>G	XP_006723850.1:p.Cys726Trp
XM_011528807.1:c.2244T>G	XP_011527109.1:p.Cys748Trp
XM_011528808.1:c.2241T>G	XP_011527110.1:p.Cys747Trp
XM_011528809.1:c.2214T>G	XP_011527111.1:p.Cys738Trp
XM_011528810.1:c.2190T>G	XP_011527112.1:p.Cys730Trp
XM_011528811.1:c.2160T>G	XP_011527113.1:p.Cys720Trp
XM_011528812.1:c.2133T>G	XP_011527114.1:p.Cys711Trp
XM_011528813.1:c.2118T>G	XP_011527115.1:p.Cys706Trp
XM_011528814.1:c.1725T>G	XP_011527116.1:p.Cys575Trp
NM_004518.5:c.2052T>G	NP_004509.2:p.Cys684Trp
NM_172106.2:c.2082T>G	NP_742104.1:p.Cys694Trp
NM_172107.3:c.2136T>G	NP_742105.1:p.Cys712Trp
NM_172108.4:c.2043T>G	NP_742106.1:p.Cys681Trp
XM_011528810.2:c.2190T>G	XP_011527112.1:p.Cys730Trp
XM_011528811.2:c.2160T>G	XP_011527113.1:p.Cys720Trp
XM_017027841.2:c.2187T>G	XP_016883330.1:p.Cys729Trp
XM_017027842.2:c.2124T>G	XP_016883331.1:p.Cys708Trp
XM_017027843.1:c.2121T>G	XP_016883332.1:p.Cys707Trp
XM_017027844.2:c.2079T>G	XP_016883333.1:p.Cys693Trp
XM_017027845.1:c.1152T>G	XP_016883334.1:p.Cys384Trp
NM_004518.6:c.2052T>G	NP_004509.2:p.Cys684Trp
NM_172106.3:c.2082T>G	NP_742104.1:p.Cys694Trp
NM_172107.4:c.2136T>G MANE Select	NP_742105.1:p.Cys712Trp
NM_172108.5:c.2043T>G	NP_742106.1:p.Cys681Trp
NM_001382235.1:c.2190T>G	NP_001369164.1:p.Cys730Trp