Canonical Allele Identifier: CA409637929

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406963-C-G
• MyVariant Identifiers: chr20:g.62038316C>G (hg19) ; chr20:g.63406963C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406963C>G , CM000682.2:g.63406963C>G	GRCh38
NC_000020.10:g.62038316C>G , CM000682.1:g.62038316C>G	GRCh37
NC_000020.9:g.61508760C>G	NCBI36
NG_009004.1:g.70678G>C
NG_009004.2:g.70678G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2354G>C	ENSP00000516702.1:p.Arg785Pro
ENST00000359125.7:c.2300G>C MANE Select	ENSP00000352035.2:p.Arg767Pro
ENST00000637193.1:c.1697G>C	ENSP00000490734.1:p.Arg566Pro
ENST00000344462.8:c.2207G>C	ENSP00000339611.4:p.Arg736Pro
ENST00000357249.6:c.1868G>C	ENSP00000349789.3:p.Arg623Pro
ENST00000359125.6:c.2300G>C	ENSP00000352035.2:p.Arg767Pro
ENST00000360480.7:c.2216G>C	ENSP00000353668.3:p.Arg739Pro
ENST00000370224.5:c.2241+83G>C	ENSP00000359244.2:n.2241+83G>C
ENST00000625514.2:c.2205+83G>C	ENSP00000486040.1:n.2205+83G>C
ENST00000626839.2:c.2246G>C	ENSP00000486706.1:p.Arg749Pro
ENST00000629241.2:c.2133+83G>C	ENSP00000487142.1:n.2133+83G>C
ENST00000629676.2:c.1680-6120G>C	ENSP00000486194.1:n.1680-6120G>C
NM_004518.4:c.2216G>C	NP_004509.2:p.Arg739Pro
NM_172106.1:c.2246G>C	NP_742104.1:p.Arg749Pro
NM_172107.2:c.2300G>C	NP_742105.1:p.Arg767Pro
NM_172108.3:c.2207G>C	NP_742106.1:p.Arg736Pro
XM_006723787.1:c.2342G>C	XP_006723850.1:p.Arg781Pro
XM_011528807.1:c.2408G>C	XP_011527109.1:p.Arg803Pro
XM_011528808.1:c.2405G>C	XP_011527110.1:p.Arg802Pro
XM_011528809.1:c.2378G>C	XP_011527111.1:p.Arg793Pro
XM_011528810.1:c.2354G>C	XP_011527112.1:p.Arg785Pro
XM_011528811.1:c.2324G>C	XP_011527113.1:p.Arg775Pro
XM_011528812.1:c.2297G>C	XP_011527114.1:p.Arg766Pro
XM_011528813.1:c.2282G>C	XP_011527115.1:p.Arg761Pro
XM_011528814.1:c.1889G>C	XP_011527116.1:p.Arg630Pro
NM_004518.5:c.2216G>C	NP_004509.2:p.Arg739Pro
NM_172106.2:c.2246G>C	NP_742104.1:p.Arg749Pro
NM_172107.3:c.2300G>C	NP_742105.1:p.Arg767Pro
NM_172108.4:c.2207G>C	NP_742106.1:p.Arg736Pro
XM_011528810.2:c.2354G>C	XP_011527112.1:p.Arg785Pro
XM_011528811.2:c.2324G>C	XP_011527113.1:p.Arg775Pro
XM_017027841.2:c.2351G>C	XP_016883330.1:p.Arg784Pro
XM_017027842.2:c.2288G>C	XP_016883331.1:p.Arg763Pro
XM_017027843.1:c.2285G>C	XP_016883332.1:p.Arg762Pro
XM_017027844.2:c.2243G>C	XP_016883333.1:p.Arg748Pro
XM_017027845.1:c.1316G>C	XP_016883334.1:p.Arg439Pro
NM_004518.6:c.2216G>C	NP_004509.2:p.Arg739Pro
NM_172106.3:c.2246G>C	NP_742104.1:p.Arg749Pro
NM_172107.4:c.2300G>C MANE Select	NP_742105.1:p.Arg767Pro
NM_172108.5:c.2207G>C	NP_742106.1:p.Arg736Pro
NM_001382235.1:c.2354G>C	NP_001369164.1:p.Arg785Pro