Canonical Allele Identifier: CA409639598

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1949C>G	ENSP00000516702.1:p.Ser650Cys
ENST00000359125.7:c.1895C>G MANE Select	ENSP00000352035.2:p.Ser632Cys
ENST00000637193.1:c.1292C>G	ENSP00000490734.1:p.Ser431Cys
ENST00000637338.1:n.52C>G
ENST00000344462.8:c.1802C>G	ENSP00000339611.4:p.Ser601Cys
ENST00000357249.6:c.1463C>G	ENSP00000349789.3:p.Ser488Cys
ENST00000359125.6:c.1895C>G	ENSP00000352035.2:p.Ser632Cys
ENST00000360480.7:c.1811C>G	ENSP00000353668.3:p.Ser604Cys
ENST00000370224.5:c.1919C>G	ENSP00000359244.2:p.Ser640Cys
ENST00000625514.2:c.1883C>G	ENSP00000486040.1:p.Ser628Cys
ENST00000626839.2:c.1841C>G	ENSP00000486706.1:p.Ser614Cys
ENST00000629241.2:c.1811C>G	ENSP00000487142.1:p.Ser604Cys
ENST00000629676.2:c.1679+6082C>G	ENSP00000486194.1:n.1679+6082C>G
NM_004518.4:c.1811C>G	NP_004509.2:p.Ser604Cys
NM_172106.1:c.1841C>G	NP_742104.1:p.Ser614Cys
NM_172107.2:c.1895C>G	NP_742105.1:p.Ser632Cys
NM_172108.3:c.1802C>G	NP_742106.1:p.Ser601Cys
XM_006723787.1:c.1937C>G	XP_006723850.1:p.Ser646Cys
XM_011528807.1:c.2003C>G	XP_011527109.1:p.Ser668Cys
XM_011528808.1:c.2000C>G	XP_011527110.1:p.Ser667Cys
XM_011528809.1:c.1973C>G	XP_011527111.1:p.Ser658Cys
XM_011528810.1:c.1949C>G	XP_011527112.1:p.Ser650Cys
XM_011528811.1:c.1919C>G	XP_011527113.1:p.Ser640Cys
XM_011528812.1:c.1892C>G	XP_011527114.1:p.Ser631Cys
XM_011528813.1:c.1877C>G	XP_011527115.1:p.Ser626Cys
XM_011528814.1:c.1484C>G	XP_011527116.1:p.Ser495Cys
NM_004518.5:c.1811C>G	NP_004509.2:p.Ser604Cys
NM_172106.2:c.1841C>G	NP_742104.1:p.Ser614Cys
NM_172107.3:c.1895C>G	NP_742105.1:p.Ser632Cys
NM_172108.4:c.1802C>G	NP_742106.1:p.Ser601Cys
XM_011528810.2:c.1949C>G	XP_011527112.1:p.Ser650Cys
XM_011528811.2:c.1919C>G	XP_011527113.1:p.Ser640Cys
XM_017027841.2:c.1946C>G	XP_016883330.1:p.Ser649Cys
XM_017027842.2:c.1883C>G	XP_016883331.1:p.Ser628Cys
XM_017027843.1:c.1880C>G	XP_016883332.1:p.Ser627Cys
XM_017027844.2:c.1838C>G	XP_016883333.1:p.Ser613Cys
XM_017027845.1:c.911C>G	XP_016883334.1:p.Ser304Cys
NM_004518.6:c.1811C>G	NP_004509.2:p.Ser604Cys
NM_172106.3:c.1841C>G	NP_742104.1:p.Ser614Cys
NM_172107.4:c.1895C>G MANE Select	NP_742105.1:p.Ser632Cys
NM_172108.5:c.1802C>G	NP_742106.1:p.Ser601Cys
NM_001382235.1:c.1949C>G	NP_001369164.1:p.Ser650Cys