Canonical Allele Identifier: CA409639600

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038721G>T (hg19) ; chr20:g.63407368G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407368G>T , CM000682.2:g.63407368G>T	GRCh38
NC_000020.10:g.62038721G>T , CM000682.1:g.62038721G>T	GRCh37
NC_000020.9:g.61509165G>T	NCBI36
NG_009004.1:g.70273C>A
NG_009004.2:g.70273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1949C>A	ENSP00000516702.1:p.Ser650Tyr
ENST00000359125.7:c.1895C>A MANE Select	ENSP00000352035.2:p.Ser632Tyr
ENST00000637193.1:c.1292C>A	ENSP00000490734.1:p.Ser431Tyr
ENST00000637338.1:n.52C>A
ENST00000344462.8:c.1802C>A	ENSP00000339611.4:p.Ser601Tyr
ENST00000357249.6:c.1463C>A	ENSP00000349789.3:p.Ser488Tyr
ENST00000359125.6:c.1895C>A	ENSP00000352035.2:p.Ser632Tyr
ENST00000360480.7:c.1811C>A	ENSP00000353668.3:p.Ser604Tyr
ENST00000370224.5:c.1919C>A	ENSP00000359244.2:p.Ser640Tyr
ENST00000625514.2:c.1883C>A	ENSP00000486040.1:p.Ser628Tyr
ENST00000626839.2:c.1841C>A	ENSP00000486706.1:p.Ser614Tyr
ENST00000629241.2:c.1811C>A	ENSP00000487142.1:p.Ser604Tyr
ENST00000629676.2:c.1679+6082C>A	ENSP00000486194.1:n.1679+6082C>A
NM_004518.4:c.1811C>A	NP_004509.2:p.Ser604Tyr
NM_172106.1:c.1841C>A	NP_742104.1:p.Ser614Tyr
NM_172107.2:c.1895C>A	NP_742105.1:p.Ser632Tyr
NM_172108.3:c.1802C>A	NP_742106.1:p.Ser601Tyr
XM_006723787.1:c.1937C>A	XP_006723850.1:p.Ser646Tyr
XM_011528807.1:c.2003C>A	XP_011527109.1:p.Ser668Tyr
XM_011528808.1:c.2000C>A	XP_011527110.1:p.Ser667Tyr
XM_011528809.1:c.1973C>A	XP_011527111.1:p.Ser658Tyr
XM_011528810.1:c.1949C>A	XP_011527112.1:p.Ser650Tyr
XM_011528811.1:c.1919C>A	XP_011527113.1:p.Ser640Tyr
XM_011528812.1:c.1892C>A	XP_011527114.1:p.Ser631Tyr
XM_011528813.1:c.1877C>A	XP_011527115.1:p.Ser626Tyr
XM_011528814.1:c.1484C>A	XP_011527116.1:p.Ser495Tyr
NM_004518.5:c.1811C>A	NP_004509.2:p.Ser604Tyr
NM_172106.2:c.1841C>A	NP_742104.1:p.Ser614Tyr
NM_172107.3:c.1895C>A	NP_742105.1:p.Ser632Tyr
NM_172108.4:c.1802C>A	NP_742106.1:p.Ser601Tyr
XM_011528810.2:c.1949C>A	XP_011527112.1:p.Ser650Tyr
XM_011528811.2:c.1919C>A	XP_011527113.1:p.Ser640Tyr
XM_017027841.2:c.1946C>A	XP_016883330.1:p.Ser649Tyr
XM_017027842.2:c.1883C>A	XP_016883331.1:p.Ser628Tyr
XM_017027843.1:c.1880C>A	XP_016883332.1:p.Ser627Tyr
XM_017027844.2:c.1838C>A	XP_016883333.1:p.Ser613Tyr
XM_017027845.1:c.911C>A	XP_016883334.1:p.Ser304Tyr
NM_004518.6:c.1811C>A	NP_004509.2:p.Ser604Tyr
NM_172106.3:c.1841C>A	NP_742104.1:p.Ser614Tyr
NM_172107.4:c.1895C>A MANE Select	NP_742105.1:p.Ser632Tyr
NM_172108.5:c.1802C>A	NP_742106.1:p.Ser601Tyr
NM_001382235.1:c.1949C>A	NP_001369164.1:p.Ser650Tyr