Canonical Allele Identifier: CA511339184

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1300964938
• gnomAD v2: 20-62038030-A-G
• gnomAD v4: 20-63406677-A-G
• MyVariant Identifiers: chr20:g.62038030A>G (hg19) ; chr20:g.63406677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406677A>G , CM000682.2:g.63406677A>G	GRCh38
NC_000020.10:g.62038030A>G , CM000682.1:g.62038030A>G	GRCh37
NC_000020.9:g.61508474A>G	NCBI36
NG_009004.1:g.70964T>C
NG_009004.2:g.70964T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2640T>C	ENSP00000516702.1:p.Phe880=
ENST00000359125.7:c.2586T>C MANE Select	ENSP00000352035.2:p.Phe862=
ENST00000637193.1:c.1983T>C	ENSP00000490734.1:p.Phe661=
ENST00000344462.8:c.2493T>C	ENSP00000339611.4:p.Phe831=
ENST00000357249.6:c.2154T>C	ENSP00000349789.3:p.Phe718=
ENST00000359125.6:c.2586T>C	ENSP00000352035.2:p.Phe862=
ENST00000360480.7:c.2502T>C	ENSP00000353668.3:p.Phe834=
ENST00000370224.5:c.2241+369T>C	ENSP00000359244.2:n.2241+369T>C
ENST00000625514.2:c.2205+369T>C	ENSP00000486040.1:n.2205+369T>C
ENST00000626839.2:c.2532T>C	ENSP00000486706.1:p.Phe844=
ENST00000629241.2:c.2133+369T>C	ENSP00000487142.1:n.2133+369T>C
ENST00000629676.2:c.1680-5834T>C	ENSP00000486194.1:n.1680-5834T>C
NM_004518.4:c.2502T>C	NP_004509.2:p.Phe834=
NM_172106.1:c.2532T>C	NP_742104.1:p.Phe844=
NM_172107.2:c.2586T>C	NP_742105.1:p.Phe862=
NM_172108.3:c.2493T>C	NP_742106.1:p.Phe831=
XM_006723787.1:c.2628T>C	XP_006723850.1:p.Phe876=
XM_011528807.1:c.2694T>C	XP_011527109.1:p.Phe898=
XM_011528808.1:c.2691T>C	XP_011527110.1:p.Phe897=
XM_011528809.1:c.2664T>C	XP_011527111.1:p.Phe888=
XM_011528810.1:c.2640T>C	XP_011527112.1:p.Phe880=
XM_011528811.1:c.2610T>C	XP_011527113.1:p.Phe870=
XM_011528812.1:c.2583T>C	XP_011527114.1:p.Phe861=
XM_011528813.1:c.2568T>C	XP_011527115.1:p.Phe856=
XM_011528814.1:c.2175T>C	XP_011527116.1:p.Phe725=
NM_004518.5:c.2502T>C	NP_004509.2:p.Phe834=
NM_172106.2:c.2532T>C	NP_742104.1:p.Phe844=
NM_172107.3:c.2586T>C	NP_742105.1:p.Phe862=
NM_172108.4:c.2493T>C	NP_742106.1:p.Phe831=
XM_011528810.2:c.2640T>C	XP_011527112.1:p.Phe880=
XM_011528811.2:c.2610T>C	XP_011527113.1:p.Phe870=
XM_017027841.2:c.2637T>C	XP_016883330.1:p.Phe879=
XM_017027842.2:c.2574T>C	XP_016883331.1:p.Phe858=
XM_017027843.1:c.2571T>C	XP_016883332.1:p.Phe857=
XM_017027844.2:c.2529T>C	XP_016883333.1:p.Phe843=
XM_017027845.1:c.1602T>C	XP_016883334.1:p.Phe534=
NM_004518.6:c.2502T>C	NP_004509.2:p.Phe834=
NM_172106.3:c.2532T>C	NP_742104.1:p.Phe844=
NM_172107.4:c.2586T>C MANE Select	NP_742105.1:p.Phe862=
NM_172108.5:c.2493T>C	NP_742106.1:p.Phe831=
NM_001382235.1:c.2640T>C	NP_001369164.1:p.Phe880=