Canonical Allele Identifier: CA409640269

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62039800C>A (hg19) ; chr20:g.63408447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63408447C>A , CM000682.2:g.63408447C>A	GRCh38
NC_000020.10:g.62039800C>A , CM000682.1:g.62039800C>A	GRCh37
NC_000020.9:g.61510244C>A	NCBI36
NG_009004.1:g.69194G>T
NG_009004.2:g.69194G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1907G>T	ENSP00000516702.1:p.Ser636Ile
ENST00000359125.7:c.1853G>T MANE Select	ENSP00000352035.2:p.Ser618Ile
ENST00000637063.1:n.38G>T
ENST00000637193.1:c.1250G>T	ENSP00000490734.1:p.Ser417Ile
ENST00000637656.1:n.9G>T
ENST00000344462.8:c.1760G>T	ENSP00000339611.4:p.Ser587Ile
ENST00000357249.6:c.1421G>T	ENSP00000349789.3:p.Ser474Ile
ENST00000359125.6:c.1853G>T	ENSP00000352035.2:p.Ser618Ile
ENST00000360480.7:c.1769G>T	ENSP00000353668.3:p.Ser590Ile
ENST00000370224.5:c.1877G>T	ENSP00000359244.2:p.Ser626Ile
ENST00000625514.2:c.1841G>T	ENSP00000486040.1:p.Ser614Ile
ENST00000626839.2:c.1799G>T	ENSP00000486706.1:p.Ser600Ile
ENST00000629241.2:c.1769G>T	ENSP00000487142.1:p.Ser590Ile
ENST00000629676.2:c.1679+5003G>T	ENSP00000486194.1:n.1679+5003G>T
NM_004518.4:c.1769G>T	NP_004509.2:p.Ser590Ile
NM_172106.1:c.1799G>T	NP_742104.1:p.Ser600Ile
NM_172107.2:c.1853G>T	NP_742105.1:p.Ser618Ile
NM_172108.3:c.1760G>T	NP_742106.1:p.Ser587Ile
XM_006723787.1:c.1895G>T	XP_006723850.1:p.Ser632Ile
XM_011528807.1:c.1961G>T	XP_011527109.1:p.Ser654Ile
XM_011528808.1:c.1958G>T	XP_011527110.1:p.Ser653Ile
XM_011528809.1:c.1931G>T	XP_011527111.1:p.Ser644Ile
XM_011528810.1:c.1907G>T	XP_011527112.1:p.Ser636Ile
XM_011528811.1:c.1877G>T	XP_011527113.1:p.Ser626Ile
XM_011528812.1:c.1850G>T	XP_011527114.1:p.Ser617Ile
XM_011528813.1:c.1835G>T	XP_011527115.1:p.Ser612Ile
XM_011528814.1:c.1442G>T	XP_011527116.1:p.Ser481Ile
XM_011528815.1:c.1961G>T	XP_011527117.1:p.Ser654Ile
NM_004518.5:c.1769G>T	NP_004509.2:p.Ser590Ile
NM_172106.2:c.1799G>T	NP_742104.1:p.Ser600Ile
NM_172107.3:c.1853G>T	NP_742105.1:p.Ser618Ile
NM_172108.4:c.1760G>T	NP_742106.1:p.Ser587Ile
XM_011528810.2:c.1907G>T	XP_011527112.1:p.Ser636Ile
XM_011528811.2:c.1877G>T	XP_011527113.1:p.Ser626Ile
XM_017027841.2:c.1904G>T	XP_016883330.1:p.Ser635Ile
XM_017027842.2:c.1841G>T	XP_016883331.1:p.Ser614Ile
XM_017027843.1:c.1838G>T	XP_016883332.1:p.Ser613Ile
XM_017027844.2:c.1796G>T	XP_016883333.1:p.Ser599Ile
XM_017027845.1:c.869G>T	XP_016883334.1:p.Ser290Ile
NM_004518.6:c.1769G>T	NP_004509.2:p.Ser590Ile
NM_172106.3:c.1799G>T	NP_742104.1:p.Ser600Ile
NM_172107.4:c.1853G>T MANE Select	NP_742105.1:p.Ser618Ile
NM_172108.5:c.1760G>T	NP_742106.1:p.Ser587Ile
NM_001382235.1:c.1907G>T	NP_001369164.1:p.Ser636Ile