Canonical Allele Identifier: CA409639109

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1157415093
• gnomAD v2: 20-62038570-C-A
• gnomAD v4: 20-63407217-C-A
• MyVariant Identifiers: chr20:g.62038570C>A (hg19) ; chr20:g.63407217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407217C>A , CM000682.2:g.63407217C>A	GRCh38
NC_000020.10:g.62038570C>A , CM000682.1:g.62038570C>A	GRCh37
NC_000020.9:g.61509014C>A	NCBI36
NG_009004.1:g.70424G>T
NG_009004.2:g.70424G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2100G>T	ENSP00000516702.1:p.Arg700Ser
ENST00000359125.7:c.2046G>T MANE Select	ENSP00000352035.2:p.Arg682Ser
ENST00000637193.1:c.1443G>T	ENSP00000490734.1:p.Arg481Ser
ENST00000344462.8:c.1953G>T	ENSP00000339611.4:p.Arg651Ser
ENST00000357249.6:c.1614G>T	ENSP00000349789.3:p.Arg538Ser
ENST00000359125.6:c.2046G>T	ENSP00000352035.2:p.Arg682Ser
ENST00000360480.7:c.1962G>T	ENSP00000353668.3:p.Arg654Ser
ENST00000370224.5:c.2070G>T	ENSP00000359244.2:p.Arg690Ser
ENST00000625514.2:c.2034G>T	ENSP00000486040.1:p.Arg678Ser
ENST00000626839.2:c.1992G>T	ENSP00000486706.1:p.Arg664Ser
ENST00000629241.2:c.1962G>T	ENSP00000487142.1:p.Arg654Ser
ENST00000629676.2:c.1679+6233G>T	ENSP00000486194.1:n.1679+6233G>T
NM_004518.4:c.1962G>T	NP_004509.2:p.Arg654Ser
NM_172106.1:c.1992G>T	NP_742104.1:p.Arg664Ser
NM_172107.2:c.2046G>T	NP_742105.1:p.Arg682Ser
NM_172108.3:c.1953G>T	NP_742106.1:p.Arg651Ser
XM_006723787.1:c.2088G>T	XP_006723850.1:p.Arg696Ser
XM_011528807.1:c.2154G>T	XP_011527109.1:p.Arg718Ser
XM_011528808.1:c.2151G>T	XP_011527110.1:p.Arg717Ser
XM_011528809.1:c.2124G>T	XP_011527111.1:p.Arg708Ser
XM_011528810.1:c.2100G>T	XP_011527112.1:p.Arg700Ser
XM_011528811.1:c.2070G>T	XP_011527113.1:p.Arg690Ser
XM_011528812.1:c.2043G>T	XP_011527114.1:p.Arg681Ser
XM_011528813.1:c.2028G>T	XP_011527115.1:p.Arg676Ser
XM_011528814.1:c.1635G>T	XP_011527116.1:p.Arg545Ser
NM_004518.5:c.1962G>T	NP_004509.2:p.Arg654Ser
NM_172106.2:c.1992G>T	NP_742104.1:p.Arg664Ser
NM_172107.3:c.2046G>T	NP_742105.1:p.Arg682Ser
NM_172108.4:c.1953G>T	NP_742106.1:p.Arg651Ser
XM_011528810.2:c.2100G>T	XP_011527112.1:p.Arg700Ser
XM_011528811.2:c.2070G>T	XP_011527113.1:p.Arg690Ser
XM_017027841.2:c.2097G>T	XP_016883330.1:p.Arg699Ser
XM_017027842.2:c.2034G>T	XP_016883331.1:p.Arg678Ser
XM_017027843.1:c.2031G>T	XP_016883332.1:p.Arg677Ser
XM_017027844.2:c.1989G>T	XP_016883333.1:p.Arg663Ser
XM_017027845.1:c.1062G>T	XP_016883334.1:p.Arg354Ser
NM_004518.6:c.1962G>T	NP_004509.2:p.Arg654Ser
NM_172106.3:c.1992G>T	NP_742104.1:p.Arg664Ser
NM_172107.4:c.2046G>T MANE Select	NP_742105.1:p.Arg682Ser
NM_172108.5:c.1953G>T	NP_742106.1:p.Arg651Ser
NM_001382235.1:c.2100G>T	NP_001369164.1:p.Arg700Ser