Canonical Allele Identifier: CA409639194

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407254-T-C
• MyVariant Identifiers: chr20:g.62038607T>C (hg19) ; chr20:g.63407254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407254T>C , CM000682.2:g.63407254T>C	GRCh38
NC_000020.10:g.62038607T>C , CM000682.1:g.62038607T>C	GRCh37
NC_000020.9:g.61509051T>C	NCBI36
NG_009004.1:g.70387A>G
NG_009004.2:g.70387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2063A>G	ENSP00000516702.1:p.Tyr688Cys
ENST00000359125.7:c.2009A>G MANE Select	ENSP00000352035.2:p.Tyr670Cys
ENST00000637193.1:c.1406A>G	ENSP00000490734.1:p.Tyr469Cys
ENST00000344462.8:c.1916A>G	ENSP00000339611.4:p.Tyr639Cys
ENST00000357249.6:c.1577A>G	ENSP00000349789.3:p.Tyr526Cys
ENST00000359125.6:c.2009A>G	ENSP00000352035.2:p.Tyr670Cys
ENST00000360480.7:c.1925A>G	ENSP00000353668.3:p.Tyr642Cys
ENST00000370224.5:c.2033A>G	ENSP00000359244.2:p.Tyr678Cys
ENST00000625514.2:c.1997A>G	ENSP00000486040.1:p.Tyr666Cys
ENST00000626839.2:c.1955A>G	ENSP00000486706.1:p.Tyr652Cys
ENST00000629241.2:c.1925A>G	ENSP00000487142.1:p.Tyr642Cys
ENST00000629676.2:c.1679+6196A>G	ENSP00000486194.1:n.1679+6196A>G
NM_004518.4:c.1925A>G	NP_004509.2:p.Tyr642Cys
NM_172106.1:c.1955A>G	NP_742104.1:p.Tyr652Cys
NM_172107.2:c.2009A>G	NP_742105.1:p.Tyr670Cys
NM_172108.3:c.1916A>G	NP_742106.1:p.Tyr639Cys
XM_006723787.1:c.2051A>G	XP_006723850.1:p.Tyr684Cys
XM_011528807.1:c.2117A>G	XP_011527109.1:p.Tyr706Cys
XM_011528808.1:c.2114A>G	XP_011527110.1:p.Tyr705Cys
XM_011528809.1:c.2087A>G	XP_011527111.1:p.Tyr696Cys
XM_011528810.1:c.2063A>G	XP_011527112.1:p.Tyr688Cys
XM_011528811.1:c.2033A>G	XP_011527113.1:p.Tyr678Cys
XM_011528812.1:c.2006A>G	XP_011527114.1:p.Tyr669Cys
XM_011528813.1:c.1991A>G	XP_011527115.1:p.Tyr664Cys
XM_011528814.1:c.1598A>G	XP_011527116.1:p.Tyr533Cys
NM_004518.5:c.1925A>G	NP_004509.2:p.Tyr642Cys
NM_172106.2:c.1955A>G	NP_742104.1:p.Tyr652Cys
NM_172107.3:c.2009A>G	NP_742105.1:p.Tyr670Cys
NM_172108.4:c.1916A>G	NP_742106.1:p.Tyr639Cys
XM_011528810.2:c.2063A>G	XP_011527112.1:p.Tyr688Cys
XM_011528811.2:c.2033A>G	XP_011527113.1:p.Tyr678Cys
XM_017027841.2:c.2060A>G	XP_016883330.1:p.Tyr687Cys
XM_017027842.2:c.1997A>G	XP_016883331.1:p.Tyr666Cys
XM_017027843.1:c.1994A>G	XP_016883332.1:p.Tyr665Cys
XM_017027844.2:c.1952A>G	XP_016883333.1:p.Tyr651Cys
XM_017027845.1:c.1025A>G	XP_016883334.1:p.Tyr342Cys
NM_004518.6:c.1925A>G	NP_004509.2:p.Tyr642Cys
NM_172106.3:c.1955A>G	NP_742104.1:p.Tyr652Cys
NM_172107.4:c.2009A>G MANE Select	NP_742105.1:p.Tyr670Cys
NM_172108.5:c.1916A>G	NP_742106.1:p.Tyr639Cys
NM_001382235.1:c.2063A>G	NP_001369164.1:p.Tyr688Cys