Canonical Allele Identifier: CA409637169

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1701425
• ClinVar RCV Id: RCV002276102
• dbSNP Id: rs1202025157
• MyVariant Identifiers: chr20:g.62038197T>G (hg19) ; chr20:g.63406844T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406844T>G , CM000682.2:g.63406844T>G	GRCh38
NC_000020.10:g.62038197T>G , CM000682.1:g.62038197T>G	GRCh37
NC_000020.9:g.61508641T>G	NCBI36
NG_009004.1:g.70797A>C
NG_009004.2:g.70797A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2473A>C	ENSP00000516702.1:p.Ile825Leu
ENST00000359125.7:c.2419A>C MANE Select	ENSP00000352035.2:p.Ile807Leu
ENST00000637193.1:c.1816A>C	ENSP00000490734.1:p.Ile606Leu
ENST00000344462.8:c.2326A>C	ENSP00000339611.4:p.Ile776Leu
ENST00000357249.6:c.1987A>C	ENSP00000349789.3:p.Ile663Leu
ENST00000359125.6:c.2419A>C	ENSP00000352035.2:p.Ile807Leu
ENST00000360480.7:c.2335A>C	ENSP00000353668.3:p.Ile779Leu
ENST00000370224.5:c.2241+202A>C	ENSP00000359244.2:n.2241+202A>C
ENST00000625514.2:c.2205+202A>C	ENSP00000486040.1:n.2205+202A>C
ENST00000626839.2:c.2365A>C	ENSP00000486706.1:p.Ile789Leu
ENST00000629241.2:c.2133+202A>C	ENSP00000487142.1:n.2133+202A>C
ENST00000629676.2:c.1680-6001A>C	ENSP00000486194.1:n.1680-6001A>C
NM_004518.4:c.2335A>C	NP_004509.2:p.Ile779Leu
NM_172106.1:c.2365A>C	NP_742104.1:p.Ile789Leu
NM_172107.2:c.2419A>C	NP_742105.1:p.Ile807Leu
NM_172108.3:c.2326A>C	NP_742106.1:p.Ile776Leu
XM_006723787.1:c.2461A>C	XP_006723850.1:p.Ile821Leu
XM_011528807.1:c.2527A>C	XP_011527109.1:p.Ile843Leu
XM_011528808.1:c.2524A>C	XP_011527110.1:p.Ile842Leu
XM_011528809.1:c.2497A>C	XP_011527111.1:p.Ile833Leu
XM_011528810.1:c.2473A>C	XP_011527112.1:p.Ile825Leu
XM_011528811.1:c.2443A>C	XP_011527113.1:p.Ile815Leu
XM_011528812.1:c.2416A>C	XP_011527114.1:p.Ile806Leu
XM_011528813.1:c.2401A>C	XP_011527115.1:p.Ile801Leu
XM_011528814.1:c.2008A>C	XP_011527116.1:p.Ile670Leu
NM_004518.5:c.2335A>C	NP_004509.2:p.Ile779Leu
NM_172106.2:c.2365A>C	NP_742104.1:p.Ile789Leu
NM_172107.3:c.2419A>C	NP_742105.1:p.Ile807Leu
NM_172108.4:c.2326A>C	NP_742106.1:p.Ile776Leu
XM_011528810.2:c.2473A>C	XP_011527112.1:p.Ile825Leu
XM_011528811.2:c.2443A>C	XP_011527113.1:p.Ile815Leu
XM_017027841.2:c.2470A>C	XP_016883330.1:p.Ile824Leu
XM_017027842.2:c.2407A>C	XP_016883331.1:p.Ile803Leu
XM_017027843.1:c.2404A>C	XP_016883332.1:p.Ile802Leu
XM_017027844.2:c.2362A>C	XP_016883333.1:p.Ile788Leu
XM_017027845.1:c.1435A>C	XP_016883334.1:p.Ile479Leu
NM_004518.6:c.2335A>C	NP_004509.2:p.Ile779Leu
NM_172106.3:c.2365A>C	NP_742104.1:p.Ile789Leu
NM_172107.4:c.2419A>C MANE Select	NP_742105.1:p.Ile807Leu
NM_172108.5:c.2326A>C	NP_742106.1:p.Ile776Leu
NM_001382235.1:c.2473A>C	NP_001369164.1:p.Ile825Leu