Canonical Allele Identifier: CA409636980

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038156G>T (hg19) ; chr20:g.63406803G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406803G>T , CM000682.2:g.63406803G>T	GRCh38
NC_000020.10:g.62038156G>T , CM000682.1:g.62038156G>T	GRCh37
NC_000020.9:g.61508600G>T	NCBI36
NG_009004.1:g.70838C>A
NG_009004.2:g.70838C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2514C>A	ENSP00000516702.1:p.Cys838Ter
ENST00000359125.7:c.2460C>A MANE Select	ENSP00000352035.2:p.Cys820Ter
ENST00000637193.1:c.1857C>A	ENSP00000490734.1:p.Cys619Ter
ENST00000344462.8:c.2367C>A	ENSP00000339611.4:p.Cys789Ter
ENST00000357249.6:c.2028C>A	ENSP00000349789.3:p.Cys676Ter
ENST00000359125.6:c.2460C>A	ENSP00000352035.2:p.Cys820Ter
ENST00000360480.7:c.2376C>A	ENSP00000353668.3:p.Cys792Ter
ENST00000370224.5:c.2241+243C>A	ENSP00000359244.2:n.2241+243C>A
ENST00000625514.2:c.2205+243C>A	ENSP00000486040.1:n.2205+243C>A
ENST00000626839.2:c.2406C>A	ENSP00000486706.1:p.Cys802Ter
ENST00000629241.2:c.2133+243C>A	ENSP00000487142.1:n.2133+243C>A
ENST00000629676.2:c.1680-5960C>A	ENSP00000486194.1:n.1680-5960C>A
NM_004518.4:c.2376C>A	NP_004509.2:p.Cys792Ter
NM_172106.1:c.2406C>A	NP_742104.1:p.Cys802Ter
NM_172107.2:c.2460C>A	NP_742105.1:p.Cys820Ter
NM_172108.3:c.2367C>A	NP_742106.1:p.Cys789Ter
XM_006723787.1:c.2502C>A	XP_006723850.1:p.Cys834Ter
XM_011528807.1:c.2568C>A	XP_011527109.1:p.Cys856Ter
XM_011528808.1:c.2565C>A	XP_011527110.1:p.Cys855Ter
XM_011528809.1:c.2538C>A	XP_011527111.1:p.Cys846Ter
XM_011528810.1:c.2514C>A	XP_011527112.1:p.Cys838Ter
XM_011528811.1:c.2484C>A	XP_011527113.1:p.Cys828Ter
XM_011528812.1:c.2457C>A	XP_011527114.1:p.Cys819Ter
XM_011528813.1:c.2442C>A	XP_011527115.1:p.Cys814Ter
XM_011528814.1:c.2049C>A	XP_011527116.1:p.Cys683Ter
NM_004518.5:c.2376C>A	NP_004509.2:p.Cys792Ter
NM_172106.2:c.2406C>A	NP_742104.1:p.Cys802Ter
NM_172107.3:c.2460C>A	NP_742105.1:p.Cys820Ter
NM_172108.4:c.2367C>A	NP_742106.1:p.Cys789Ter
XM_011528810.2:c.2514C>A	XP_011527112.1:p.Cys838Ter
XM_011528811.2:c.2484C>A	XP_011527113.1:p.Cys828Ter
XM_017027841.2:c.2511C>A	XP_016883330.1:p.Cys837Ter
XM_017027842.2:c.2448C>A	XP_016883331.1:p.Cys816Ter
XM_017027843.1:c.2445C>A	XP_016883332.1:p.Cys815Ter
XM_017027844.2:c.2403C>A	XP_016883333.1:p.Cys801Ter
XM_017027845.1:c.1476C>A	XP_016883334.1:p.Cys492Ter
NM_004518.6:c.2376C>A	NP_004509.2:p.Cys792Ter
NM_172106.3:c.2406C>A	NP_742104.1:p.Cys802Ter
NM_172107.4:c.2460C>A MANE Select	NP_742105.1:p.Cys820Ter
NM_172108.5:c.2367C>A	NP_742106.1:p.Cys789Ter
NM_001382235.1:c.2514C>A	NP_001369164.1:p.Cys838Ter