Canonical Allele Identifier: CA317421801

Gene: KCNQ2

Linked Data

• dbSNP Id: rs569550810
• gnomAD v3: 20-63406895-T-G
• gnomAD v4: 20-63406895-T-G
• MyVariant Identifiers: chr20:g.62038248T>G (hg19) ; chr20:g.63406895T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406895T>G , CM000682.2:g.63406895T>G	GRCh38
NC_000020.10:g.62038248T>G , CM000682.1:g.62038248T>G	GRCh37
NC_000020.9:g.61508692T>G	NCBI36
NG_009004.1:g.70746A>C
NG_009004.2:g.70746A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2422A>C	ENSP00000516702.1:p.Ile808Leu
ENST00000359125.7:c.2368A>C MANE Select	ENSP00000352035.2:p.Ile790Leu
ENST00000637193.1:c.1765A>C	ENSP00000490734.1:p.Ile589Leu
ENST00000344462.8:c.2275A>C	ENSP00000339611.4:p.Ile759Leu
ENST00000357249.6:c.1936A>C	ENSP00000349789.3:p.Ile646Leu
ENST00000359125.6:c.2368A>C	ENSP00000352035.2:p.Ile790Leu
ENST00000360480.7:c.2284A>C	ENSP00000353668.3:p.Ile762Leu
ENST00000370224.5:c.2241+151A>C	ENSP00000359244.2:n.2241+151A>C
ENST00000625514.2:c.2205+151A>C	ENSP00000486040.1:n.2205+151A>C
ENST00000626839.2:c.2314A>C	ENSP00000486706.1:p.Ile772Leu
ENST00000629241.2:c.2133+151A>C	ENSP00000487142.1:n.2133+151A>C
ENST00000629676.2:c.1680-6052A>C	ENSP00000486194.1:n.1680-6052A>C
NM_004518.4:c.2284A>C	NP_004509.2:p.Ile762Leu
NM_172106.1:c.2314A>C	NP_742104.1:p.Ile772Leu
NM_172107.2:c.2368A>C	NP_742105.1:p.Ile790Leu
NM_172108.3:c.2275A>C	NP_742106.1:p.Ile759Leu
XM_006723787.1:c.2410A>C	XP_006723850.1:p.Ile804Leu
XM_011528807.1:c.2476A>C	XP_011527109.1:p.Ile826Leu
XM_011528808.1:c.2473A>C	XP_011527110.1:p.Ile825Leu
XM_011528809.1:c.2446A>C	XP_011527111.1:p.Ile816Leu
XM_011528810.1:c.2422A>C	XP_011527112.1:p.Ile808Leu
XM_011528811.1:c.2392A>C	XP_011527113.1:p.Ile798Leu
XM_011528812.1:c.2365A>C	XP_011527114.1:p.Ile789Leu
XM_011528813.1:c.2350A>C	XP_011527115.1:p.Ile784Leu
XM_011528814.1:c.1957A>C	XP_011527116.1:p.Ile653Leu
NM_004518.5:c.2284A>C	NP_004509.2:p.Ile762Leu
NM_172106.2:c.2314A>C	NP_742104.1:p.Ile772Leu
NM_172107.3:c.2368A>C	NP_742105.1:p.Ile790Leu
NM_172108.4:c.2275A>C	NP_742106.1:p.Ile759Leu
XM_011528810.2:c.2422A>C	XP_011527112.1:p.Ile808Leu
XM_011528811.2:c.2392A>C	XP_011527113.1:p.Ile798Leu
XM_017027841.2:c.2419A>C	XP_016883330.1:p.Ile807Leu
XM_017027842.2:c.2356A>C	XP_016883331.1:p.Ile786Leu
XM_017027843.1:c.2353A>C	XP_016883332.1:p.Ile785Leu
XM_017027844.2:c.2311A>C	XP_016883333.1:p.Ile771Leu
XM_017027845.1:c.1384A>C	XP_016883334.1:p.Ile462Leu
NM_004518.6:c.2284A>C	NP_004509.2:p.Ile762Leu
NM_172106.3:c.2314A>C	NP_742104.1:p.Ile772Leu
NM_172107.4:c.2368A>C MANE Select	NP_742105.1:p.Ile790Leu
NM_172108.5:c.2275A>C	NP_742106.1:p.Ile759Leu
NM_001382235.1:c.2422A>C	NP_001369164.1:p.Ile808Leu