Canonical Allele Identifier: CA409637793

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406943-A-G
• MyVariant Identifiers: chr20:g.62038296A>G (hg19) ; chr20:g.63406943A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406943A>G , CM000682.2:g.63406943A>G	GRCh38
NC_000020.10:g.62038296A>G , CM000682.1:g.62038296A>G	GRCh37
NC_000020.9:g.61508740A>G	NCBI36
NG_009004.1:g.70698T>C
NG_009004.2:g.70698T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2374T>C	ENSP00000516702.1:p.Cys792Arg
ENST00000359125.7:c.2320T>C MANE Select	ENSP00000352035.2:p.Cys774Arg
ENST00000637193.1:c.1717T>C	ENSP00000490734.1:p.Cys573Arg
ENST00000344462.8:c.2227T>C	ENSP00000339611.4:p.Cys743Arg
ENST00000357249.6:c.1888T>C	ENSP00000349789.3:p.Cys630Arg
ENST00000359125.6:c.2320T>C	ENSP00000352035.2:p.Cys774Arg
ENST00000360480.7:c.2236T>C	ENSP00000353668.3:p.Cys746Arg
ENST00000370224.5:c.2241+103T>C	ENSP00000359244.2:n.2241+103T>C
ENST00000625514.2:c.2205+103T>C	ENSP00000486040.1:n.2205+103T>C
ENST00000626839.2:c.2266T>C	ENSP00000486706.1:p.Cys756Arg
ENST00000629241.2:c.2133+103T>C	ENSP00000487142.1:n.2133+103T>C
ENST00000629676.2:c.1680-6100T>C	ENSP00000486194.1:n.1680-6100T>C
NM_004518.4:c.2236T>C	NP_004509.2:p.Cys746Arg
NM_172106.1:c.2266T>C	NP_742104.1:p.Cys756Arg
NM_172107.2:c.2320T>C	NP_742105.1:p.Cys774Arg
NM_172108.3:c.2227T>C	NP_742106.1:p.Cys743Arg
XM_006723787.1:c.2362T>C	XP_006723850.1:p.Cys788Arg
XM_011528807.1:c.2428T>C	XP_011527109.1:p.Cys810Arg
XM_011528808.1:c.2425T>C	XP_011527110.1:p.Cys809Arg
XM_011528809.1:c.2398T>C	XP_011527111.1:p.Cys800Arg
XM_011528810.1:c.2374T>C	XP_011527112.1:p.Cys792Arg
XM_011528811.1:c.2344T>C	XP_011527113.1:p.Cys782Arg
XM_011528812.1:c.2317T>C	XP_011527114.1:p.Cys773Arg
XM_011528813.1:c.2302T>C	XP_011527115.1:p.Cys768Arg
XM_011528814.1:c.1909T>C	XP_011527116.1:p.Cys637Arg
NM_004518.5:c.2236T>C	NP_004509.2:p.Cys746Arg
NM_172106.2:c.2266T>C	NP_742104.1:p.Cys756Arg
NM_172107.3:c.2320T>C	NP_742105.1:p.Cys774Arg
NM_172108.4:c.2227T>C	NP_742106.1:p.Cys743Arg
XM_011528810.2:c.2374T>C	XP_011527112.1:p.Cys792Arg
XM_011528811.2:c.2344T>C	XP_011527113.1:p.Cys782Arg
XM_017027841.2:c.2371T>C	XP_016883330.1:p.Cys791Arg
XM_017027842.2:c.2308T>C	XP_016883331.1:p.Cys770Arg
XM_017027843.1:c.2305T>C	XP_016883332.1:p.Cys769Arg
XM_017027844.2:c.2263T>C	XP_016883333.1:p.Cys755Arg
XM_017027845.1:c.1336T>C	XP_016883334.1:p.Cys446Arg
NM_004518.6:c.2236T>C	NP_004509.2:p.Cys746Arg
NM_172106.3:c.2266T>C	NP_742104.1:p.Cys756Arg
NM_172107.4:c.2320T>C MANE Select	NP_742105.1:p.Cys774Arg
NM_172108.5:c.2227T>C	NP_742106.1:p.Cys743Arg
NM_001382235.1:c.2374T>C	NP_001369164.1:p.Cys792Arg