Canonical Allele Identifier: CA409636383

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406662-C-T
• MyVariant Identifiers: chr20:g.62038015C>T (hg19) ; chr20:g.63406662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406662C>T , CM000682.2:g.63406662C>T	GRCh38
NC_000020.10:g.62038015C>T , CM000682.1:g.62038015C>T	GRCh37
NC_000020.9:g.61508459C>T	NCBI36
NG_009004.1:g.70979G>A
NG_009004.2:g.70979G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2655G>A	ENSP00000516702.1:p.Trp885Ter
ENST00000359125.7:c.2601G>A MANE Select	ENSP00000352035.2:p.Trp867Ter
ENST00000637193.1:c.1998G>A	ENSP00000490734.1:p.Trp666Ter
ENST00000344462.8:c.2508G>A	ENSP00000339611.4:p.Trp836Ter
ENST00000357249.6:c.2169G>A	ENSP00000349789.3:p.Trp723Ter
ENST00000359125.6:c.2601G>A	ENSP00000352035.2:p.Trp867Ter
ENST00000360480.7:c.2517G>A	ENSP00000353668.3:p.Trp839Ter
ENST00000370224.5:c.2241+384G>A	ENSP00000359244.2:n.2241+384G>A
ENST00000625514.2:c.2205+384G>A	ENSP00000486040.1:n.2205+384G>A
ENST00000626839.2:c.2547G>A	ENSP00000486706.1:p.Trp849Ter
ENST00000629241.2:c.2133+384G>A	ENSP00000487142.1:n.2133+384G>A
ENST00000629676.2:c.1680-5819G>A	ENSP00000486194.1:n.1680-5819G>A
NM_004518.4:c.2517G>A	NP_004509.2:p.Trp839Ter
NM_172106.1:c.2547G>A	NP_742104.1:p.Trp849Ter
NM_172107.2:c.2601G>A	NP_742105.1:p.Trp867Ter
NM_172108.3:c.2508G>A	NP_742106.1:p.Trp836Ter
XM_006723787.1:c.2643G>A	XP_006723850.1:p.Trp881Ter
XM_011528807.1:c.2709G>A	XP_011527109.1:p.Trp903Ter
XM_011528808.1:c.2706G>A	XP_011527110.1:p.Trp902Ter
XM_011528809.1:c.2679G>A	XP_011527111.1:p.Trp893Ter
XM_011528810.1:c.2655G>A	XP_011527112.1:p.Trp885Ter
XM_011528811.1:c.2625G>A	XP_011527113.1:p.Trp875Ter
XM_011528812.1:c.2598G>A	XP_011527114.1:p.Trp866Ter
XM_011528813.1:c.2583G>A	XP_011527115.1:p.Trp861Ter
XM_011528814.1:c.2190G>A	XP_011527116.1:p.Trp730Ter
NM_004518.5:c.2517G>A	NP_004509.2:p.Trp839Ter
NM_172106.2:c.2547G>A	NP_742104.1:p.Trp849Ter
NM_172107.3:c.2601G>A	NP_742105.1:p.Trp867Ter
NM_172108.4:c.2508G>A	NP_742106.1:p.Trp836Ter
XM_011528810.2:c.2655G>A	XP_011527112.1:p.Trp885Ter
XM_011528811.2:c.2625G>A	XP_011527113.1:p.Trp875Ter
XM_017027841.2:c.2652G>A	XP_016883330.1:p.Trp884Ter
XM_017027842.2:c.2589G>A	XP_016883331.1:p.Trp863Ter
XM_017027843.1:c.2586G>A	XP_016883332.1:p.Trp862Ter
XM_017027844.2:c.2544G>A	XP_016883333.1:p.Trp848Ter
XM_017027845.1:c.1617G>A	XP_016883334.1:p.Trp539Ter
NM_004518.6:c.2517G>A	NP_004509.2:p.Trp839Ter
NM_172106.3:c.2547G>A	NP_742104.1:p.Trp849Ter
NM_172107.4:c.2601G>A MANE Select	NP_742105.1:p.Trp867Ter
NM_172108.5:c.2508G>A	NP_742106.1:p.Trp836Ter
NM_001382235.1:c.2655G>A	NP_001369164.1:p.Trp885Ter