Canonical Allele Identifier: CA409639158

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1310012090
• gnomAD v2: 20-62038592-T-C
• MyVariant Identifiers: chr20:g.62038592T>C (hg19) ; chr20:g.63407239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407239T>C , CM000682.2:g.63407239T>C	GRCh38
NC_000020.10:g.62038592T>C , CM000682.1:g.62038592T>C	GRCh37
NC_000020.9:g.61509036T>C	NCBI36
NG_009004.1:g.70402A>G
NG_009004.2:g.70402A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2078A>G	ENSP00000516702.1:p.Asp693Gly
ENST00000359125.7:c.2024A>G MANE Select	ENSP00000352035.2:p.Asp675Gly
ENST00000637193.1:c.1421A>G	ENSP00000490734.1:p.Asp474Gly
ENST00000344462.8:c.1931A>G	ENSP00000339611.4:p.Asp644Gly
ENST00000357249.6:c.1592A>G	ENSP00000349789.3:p.Asp531Gly
ENST00000359125.6:c.2024A>G	ENSP00000352035.2:p.Asp675Gly
ENST00000360480.7:c.1940A>G	ENSP00000353668.3:p.Asp647Gly
ENST00000370224.5:c.2048A>G	ENSP00000359244.2:p.Asp683Gly
ENST00000625514.2:c.2012A>G	ENSP00000486040.1:p.Asp671Gly
ENST00000626839.2:c.1970A>G	ENSP00000486706.1:p.Asp657Gly
ENST00000629241.2:c.1940A>G	ENSP00000487142.1:p.Asp647Gly
ENST00000629676.2:c.1679+6211A>G	ENSP00000486194.1:n.1679+6211A>G
NM_004518.4:c.1940A>G	NP_004509.2:p.Asp647Gly
NM_172106.1:c.1970A>G	NP_742104.1:p.Asp657Gly
NM_172107.2:c.2024A>G	NP_742105.1:p.Asp675Gly
NM_172108.3:c.1931A>G	NP_742106.1:p.Asp644Gly
XM_006723787.1:c.2066A>G	XP_006723850.1:p.Asp689Gly
XM_011528807.1:c.2132A>G	XP_011527109.1:p.Asp711Gly
XM_011528808.1:c.2129A>G	XP_011527110.1:p.Asp710Gly
XM_011528809.1:c.2102A>G	XP_011527111.1:p.Asp701Gly
XM_011528810.1:c.2078A>G	XP_011527112.1:p.Asp693Gly
XM_011528811.1:c.2048A>G	XP_011527113.1:p.Asp683Gly
XM_011528812.1:c.2021A>G	XP_011527114.1:p.Asp674Gly
XM_011528813.1:c.2006A>G	XP_011527115.1:p.Asp669Gly
XM_011528814.1:c.1613A>G	XP_011527116.1:p.Asp538Gly
NM_004518.5:c.1940A>G	NP_004509.2:p.Asp647Gly
NM_172106.2:c.1970A>G	NP_742104.1:p.Asp657Gly
NM_172107.3:c.2024A>G	NP_742105.1:p.Asp675Gly
NM_172108.4:c.1931A>G	NP_742106.1:p.Asp644Gly
XM_011528810.2:c.2078A>G	XP_011527112.1:p.Asp693Gly
XM_011528811.2:c.2048A>G	XP_011527113.1:p.Asp683Gly
XM_017027841.2:c.2075A>G	XP_016883330.1:p.Asp692Gly
XM_017027842.2:c.2012A>G	XP_016883331.1:p.Asp671Gly
XM_017027843.1:c.2009A>G	XP_016883332.1:p.Asp670Gly
XM_017027844.2:c.1967A>G	XP_016883333.1:p.Asp656Gly
XM_017027845.1:c.1040A>G	XP_016883334.1:p.Asp347Gly
NM_004518.6:c.1940A>G	NP_004509.2:p.Asp647Gly
NM_172106.3:c.1970A>G	NP_742104.1:p.Asp657Gly
NM_172107.4:c.2024A>G MANE Select	NP_742105.1:p.Asp675Gly
NM_172108.5:c.1931A>G	NP_742106.1:p.Asp644Gly
NM_001382235.1:c.2078A>G	NP_001369164.1:p.Asp693Gly