Canonical Allele Identifier: CA409636425

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406673-C-A
• MyVariant Identifiers: chr20:g.62038026C>A (hg19) ; chr20:g.63406673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406673C>A , CM000682.2:g.63406673C>A	GRCh38
NC_000020.10:g.62038026C>A , CM000682.1:g.62038026C>A	GRCh37
NC_000020.9:g.61508470C>A	NCBI36
NG_009004.1:g.70968G>T
NG_009004.2:g.70968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2644G>T	ENSP00000516702.1:p.Asp882Tyr
ENST00000359125.7:c.2590G>T MANE Select	ENSP00000352035.2:p.Asp864Tyr
ENST00000637193.1:c.1987G>T	ENSP00000490734.1:p.Asp663Tyr
ENST00000344462.8:c.2497G>T	ENSP00000339611.4:p.Asp833Tyr
ENST00000357249.6:c.2158G>T	ENSP00000349789.3:p.Asp720Tyr
ENST00000359125.6:c.2590G>T	ENSP00000352035.2:p.Asp864Tyr
ENST00000360480.7:c.2506G>T	ENSP00000353668.3:p.Asp836Tyr
ENST00000370224.5:c.2241+373G>T	ENSP00000359244.2:n.2241+373G>T
ENST00000625514.2:c.2205+373G>T	ENSP00000486040.1:n.2205+373G>T
ENST00000626839.2:c.2536G>T	ENSP00000486706.1:p.Asp846Tyr
ENST00000629241.2:c.2133+373G>T	ENSP00000487142.1:n.2133+373G>T
ENST00000629676.2:c.1680-5830G>T	ENSP00000486194.1:n.1680-5830G>T
NM_004518.4:c.2506G>T	NP_004509.2:p.Asp836Tyr
NM_172106.1:c.2536G>T	NP_742104.1:p.Asp846Tyr
NM_172107.2:c.2590G>T	NP_742105.1:p.Asp864Tyr
NM_172108.3:c.2497G>T	NP_742106.1:p.Asp833Tyr
XM_006723787.1:c.2632G>T	XP_006723850.1:p.Asp878Tyr
XM_011528807.1:c.2698G>T	XP_011527109.1:p.Asp900Tyr
XM_011528808.1:c.2695G>T	XP_011527110.1:p.Asp899Tyr
XM_011528809.1:c.2668G>T	XP_011527111.1:p.Asp890Tyr
XM_011528810.1:c.2644G>T	XP_011527112.1:p.Asp882Tyr
XM_011528811.1:c.2614G>T	XP_011527113.1:p.Asp872Tyr
XM_011528812.1:c.2587G>T	XP_011527114.1:p.Asp863Tyr
XM_011528813.1:c.2572G>T	XP_011527115.1:p.Asp858Tyr
XM_011528814.1:c.2179G>T	XP_011527116.1:p.Asp727Tyr
NM_004518.5:c.2506G>T	NP_004509.2:p.Asp836Tyr
NM_172106.2:c.2536G>T	NP_742104.1:p.Asp846Tyr
NM_172107.3:c.2590G>T	NP_742105.1:p.Asp864Tyr
NM_172108.4:c.2497G>T	NP_742106.1:p.Asp833Tyr
XM_011528810.2:c.2644G>T	XP_011527112.1:p.Asp882Tyr
XM_011528811.2:c.2614G>T	XP_011527113.1:p.Asp872Tyr
XM_017027841.2:c.2641G>T	XP_016883330.1:p.Asp881Tyr
XM_017027842.2:c.2578G>T	XP_016883331.1:p.Asp860Tyr
XM_017027843.1:c.2575G>T	XP_016883332.1:p.Asp859Tyr
XM_017027844.2:c.2533G>T	XP_016883333.1:p.Asp845Tyr
XM_017027845.1:c.1606G>T	XP_016883334.1:p.Asp536Tyr
NM_004518.6:c.2506G>T	NP_004509.2:p.Asp836Tyr
NM_172106.3:c.2536G>T	NP_742104.1:p.Asp846Tyr
NM_172107.4:c.2590G>T MANE Select	NP_742105.1:p.Asp864Tyr
NM_172108.5:c.2497G>T	NP_742106.1:p.Asp833Tyr
NM_001382235.1:c.2644G>T	NP_001369164.1:p.Asp882Tyr