Canonical Allele Identifier: CA409637270

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1319954117
• gnomAD v2: 20-62038218-G-A
• gnomAD v4: 20-63406865-G-A
• COSMIC: COSM5433879 ; COSM5433880 ; COSM5433881
• MyVariant Identifiers: chr20:g.62038218G>A (hg19) ; chr20:g.63406865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406865G>A , CM000682.2:g.63406865G>A	GRCh38
NC_000020.10:g.62038218G>A , CM000682.1:g.62038218G>A	GRCh37
NC_000020.9:g.61508662G>A	NCBI36
NG_009004.1:g.70776C>T
NG_009004.2:g.70776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2452C>T	ENSP00000516702.1:p.Arg818Cys
ENST00000359125.7:c.2398C>T MANE Select	ENSP00000352035.2:p.Arg800Cys
ENST00000637193.1:c.1795C>T	ENSP00000490734.1:p.Arg599Cys
ENST00000344462.8:c.2305C>T	ENSP00000339611.4:p.Arg769Cys
ENST00000357249.6:c.1966C>T	ENSP00000349789.3:p.Arg656Cys
ENST00000359125.6:c.2398C>T	ENSP00000352035.2:p.Arg800Cys
ENST00000360480.7:c.2314C>T	ENSP00000353668.3:p.Arg772Cys
ENST00000370224.5:c.2241+181C>T	ENSP00000359244.2:n.2241+181C>T
ENST00000625514.2:c.2205+181C>T	ENSP00000486040.1:n.2205+181C>T
ENST00000626839.2:c.2344C>T	ENSP00000486706.1:p.Arg782Cys
ENST00000629241.2:c.2133+181C>T	ENSP00000487142.1:n.2133+181C>T
ENST00000629676.2:c.1680-6022C>T	ENSP00000486194.1:n.1680-6022C>T
NM_004518.4:c.2314C>T	NP_004509.2:p.Arg772Cys
NM_172106.1:c.2344C>T	NP_742104.1:p.Arg782Cys
NM_172107.2:c.2398C>T	NP_742105.1:p.Arg800Cys
NM_172108.3:c.2305C>T	NP_742106.1:p.Arg769Cys
XM_006723787.1:c.2440C>T	XP_006723850.1:p.Arg814Cys
XM_011528807.1:c.2506C>T	XP_011527109.1:p.Arg836Cys
XM_011528808.1:c.2503C>T	XP_011527110.1:p.Arg835Cys
XM_011528809.1:c.2476C>T	XP_011527111.1:p.Arg826Cys
XM_011528810.1:c.2452C>T	XP_011527112.1:p.Arg818Cys
XM_011528811.1:c.2422C>T	XP_011527113.1:p.Arg808Cys
XM_011528812.1:c.2395C>T	XP_011527114.1:p.Arg799Cys
XM_011528813.1:c.2380C>T	XP_011527115.1:p.Arg794Cys
XM_011528814.1:c.1987C>T	XP_011527116.1:p.Arg663Cys
NM_004518.5:c.2314C>T	NP_004509.2:p.Arg772Cys
NM_172106.2:c.2344C>T	NP_742104.1:p.Arg782Cys
NM_172107.3:c.2398C>T	NP_742105.1:p.Arg800Cys
NM_172108.4:c.2305C>T	NP_742106.1:p.Arg769Cys
XM_011528810.2:c.2452C>T	XP_011527112.1:p.Arg818Cys
XM_011528811.2:c.2422C>T	XP_011527113.1:p.Arg808Cys
XM_017027841.2:c.2449C>T	XP_016883330.1:p.Arg817Cys
XM_017027842.2:c.2386C>T	XP_016883331.1:p.Arg796Cys
XM_017027843.1:c.2383C>T	XP_016883332.1:p.Arg795Cys
XM_017027844.2:c.2341C>T	XP_016883333.1:p.Arg781Cys
XM_017027845.1:c.1414C>T	XP_016883334.1:p.Arg472Cys
NM_004518.6:c.2314C>T	NP_004509.2:p.Arg772Cys
NM_172106.3:c.2344C>T	NP_742104.1:p.Arg782Cys
NM_172107.4:c.2398C>T MANE Select	NP_742105.1:p.Arg800Cys
NM_172108.5:c.2305C>T	NP_742106.1:p.Arg769Cys
NM_001382235.1:c.2452C>T	NP_001369164.1:p.Arg818Cys