Canonical Allele Identifier: CA409639624

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038727A>T (hg19) ; chr20:g.63407374A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407374A>T , CM000682.2:g.63407374A>T	GRCh38
NC_000020.10:g.62038727A>T , CM000682.1:g.62038727A>T	GRCh37
NC_000020.9:g.61509171A>T	NCBI36
NG_009004.1:g.70267T>A
NG_009004.2:g.70267T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1943T>A	ENSP00000516702.1:p.Val648Asp
ENST00000359125.7:c.1889T>A MANE Select	ENSP00000352035.2:p.Val630Asp
ENST00000637193.1:c.1286T>A	ENSP00000490734.1:p.Val429Asp
ENST00000637338.1:n.46T>A
ENST00000344462.8:c.1796T>A	ENSP00000339611.4:p.Val599Asp
ENST00000357249.6:c.1457T>A	ENSP00000349789.3:p.Val486Asp
ENST00000359125.6:c.1889T>A	ENSP00000352035.2:p.Val630Asp
ENST00000360480.7:c.1805T>A	ENSP00000353668.3:p.Val602Asp
ENST00000370224.5:c.1913T>A	ENSP00000359244.2:p.Val638Asp
ENST00000625514.2:c.1877T>A	ENSP00000486040.1:p.Val626Asp
ENST00000626839.2:c.1835T>A	ENSP00000486706.1:p.Val612Asp
ENST00000629241.2:c.1805T>A	ENSP00000487142.1:p.Val602Asp
ENST00000629676.2:c.1679+6076T>A	ENSP00000486194.1:n.1679+6076T>A
NM_004518.4:c.1805T>A	NP_004509.2:p.Val602Asp
NM_172106.1:c.1835T>A	NP_742104.1:p.Val612Asp
NM_172107.2:c.1889T>A	NP_742105.1:p.Val630Asp
NM_172108.3:c.1796T>A	NP_742106.1:p.Val599Asp
XM_006723787.1:c.1931T>A	XP_006723850.1:p.Val644Asp
XM_011528807.1:c.1997T>A	XP_011527109.1:p.Val666Asp
XM_011528808.1:c.1994T>A	XP_011527110.1:p.Val665Asp
XM_011528809.1:c.1967T>A	XP_011527111.1:p.Val656Asp
XM_011528810.1:c.1943T>A	XP_011527112.1:p.Val648Asp
XM_011528811.1:c.1913T>A	XP_011527113.1:p.Val638Asp
XM_011528812.1:c.1886T>A	XP_011527114.1:p.Val629Asp
XM_011528813.1:c.1871T>A	XP_011527115.1:p.Val624Asp
XM_011528814.1:c.1478T>A	XP_011527116.1:p.Val493Asp
NM_004518.5:c.1805T>A	NP_004509.2:p.Val602Asp
NM_172106.2:c.1835T>A	NP_742104.1:p.Val612Asp
NM_172107.3:c.1889T>A	NP_742105.1:p.Val630Asp
NM_172108.4:c.1796T>A	NP_742106.1:p.Val599Asp
XM_011528810.2:c.1943T>A	XP_011527112.1:p.Val648Asp
XM_011528811.2:c.1913T>A	XP_011527113.1:p.Val638Asp
XM_017027841.2:c.1940T>A	XP_016883330.1:p.Val647Asp
XM_017027842.2:c.1877T>A	XP_016883331.1:p.Val626Asp
XM_017027843.1:c.1874T>A	XP_016883332.1:p.Val625Asp
XM_017027844.2:c.1832T>A	XP_016883333.1:p.Val611Asp
XM_017027845.1:c.905T>A	XP_016883334.1:p.Val302Asp
NM_004518.6:c.1805T>A	NP_004509.2:p.Val602Asp
NM_172106.3:c.1835T>A	NP_742104.1:p.Val612Asp
NM_172107.4:c.1889T>A MANE Select	NP_742105.1:p.Val630Asp
NM_172108.5:c.1796T>A	NP_742106.1:p.Val599Asp
NM_001382235.1:c.1943T>A	NP_001369164.1:p.Val648Asp