Canonical Allele Identifier: CA409636842

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406770-C-A
• MyVariant Identifiers: chr20:g.62038123C>A (hg19) ; chr20:g.63406770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406770C>A , CM000682.2:g.63406770C>A	GRCh38
NC_000020.10:g.62038123C>A , CM000682.1:g.62038123C>A	GRCh37
NC_000020.9:g.61508567C>A	NCBI36
NG_009004.1:g.70871G>T
NG_009004.2:g.70871G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2547G>T	ENSP00000516702.1:p.Arg849Ser
ENST00000359125.7:c.2493G>T MANE Select	ENSP00000352035.2:p.Arg831Ser
ENST00000637193.1:c.1890G>T	ENSP00000490734.1:p.Arg630Ser
ENST00000344462.8:c.2400G>T	ENSP00000339611.4:p.Arg800Ser
ENST00000357249.6:c.2061G>T	ENSP00000349789.3:p.Arg687Ser
ENST00000359125.6:c.2493G>T	ENSP00000352035.2:p.Arg831Ser
ENST00000360480.7:c.2409G>T	ENSP00000353668.3:p.Arg803Ser
ENST00000370224.5:c.2241+276G>T	ENSP00000359244.2:n.2241+276G>T
ENST00000625514.2:c.2205+276G>T	ENSP00000486040.1:n.2205+276G>T
ENST00000626839.2:c.2439G>T	ENSP00000486706.1:p.Arg813Ser
ENST00000629241.2:c.2133+276G>T	ENSP00000487142.1:n.2133+276G>T
ENST00000629676.2:c.1680-5927G>T	ENSP00000486194.1:n.1680-5927G>T
NM_004518.4:c.2409G>T	NP_004509.2:p.Arg803Ser
NM_172106.1:c.2439G>T	NP_742104.1:p.Arg813Ser
NM_172107.2:c.2493G>T	NP_742105.1:p.Arg831Ser
NM_172108.3:c.2400G>T	NP_742106.1:p.Arg800Ser
XM_006723787.1:c.2535G>T	XP_006723850.1:p.Arg845Ser
XM_011528807.1:c.2601G>T	XP_011527109.1:p.Arg867Ser
XM_011528808.1:c.2598G>T	XP_011527110.1:p.Arg866Ser
XM_011528809.1:c.2571G>T	XP_011527111.1:p.Arg857Ser
XM_011528810.1:c.2547G>T	XP_011527112.1:p.Arg849Ser
XM_011528811.1:c.2517G>T	XP_011527113.1:p.Arg839Ser
XM_011528812.1:c.2490G>T	XP_011527114.1:p.Arg830Ser
XM_011528813.1:c.2475G>T	XP_011527115.1:p.Arg825Ser
XM_011528814.1:c.2082G>T	XP_011527116.1:p.Arg694Ser
NM_004518.5:c.2409G>T	NP_004509.2:p.Arg803Ser
NM_172106.2:c.2439G>T	NP_742104.1:p.Arg813Ser
NM_172107.3:c.2493G>T	NP_742105.1:p.Arg831Ser
NM_172108.4:c.2400G>T	NP_742106.1:p.Arg800Ser
XM_011528810.2:c.2547G>T	XP_011527112.1:p.Arg849Ser
XM_011528811.2:c.2517G>T	XP_011527113.1:p.Arg839Ser
XM_017027841.2:c.2544G>T	XP_016883330.1:p.Arg848Ser
XM_017027842.2:c.2481G>T	XP_016883331.1:p.Arg827Ser
XM_017027843.1:c.2478G>T	XP_016883332.1:p.Arg826Ser
XM_017027844.2:c.2436G>T	XP_016883333.1:p.Arg812Ser
XM_017027845.1:c.1509G>T	XP_016883334.1:p.Arg503Ser
NM_004518.6:c.2409G>T	NP_004509.2:p.Arg803Ser
NM_172106.3:c.2439G>T	NP_742104.1:p.Arg813Ser
NM_172107.4:c.2493G>T MANE Select	NP_742105.1:p.Arg831Ser
NM_172108.5:c.2400G>T	NP_742106.1:p.Arg800Ser
NM_001382235.1:c.2547G>T	NP_001369164.1:p.Arg849Ser