Canonical Allele Identifier: CA409638056

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038337C>G (hg19) ; chr20:g.63406984C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406984C>G , CM000682.2:g.63406984C>G	GRCh38
NC_000020.10:g.62038337C>G , CM000682.1:g.62038337C>G	GRCh37
NC_000020.9:g.61508781C>G	NCBI36
NG_009004.1:g.70657G>C
NG_009004.2:g.70657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2333G>C	ENSP00000516702.1:p.Arg778Pro
ENST00000359125.7:c.2279G>C MANE Select	ENSP00000352035.2:p.Arg760Pro
ENST00000637193.1:c.1676G>C	ENSP00000490734.1:p.Arg559Pro
ENST00000344462.8:c.2186G>C	ENSP00000339611.4:p.Arg729Pro
ENST00000357249.6:c.1847G>C	ENSP00000349789.3:p.Arg616Pro
ENST00000359125.6:c.2279G>C	ENSP00000352035.2:p.Arg760Pro
ENST00000360480.7:c.2195G>C	ENSP00000353668.3:p.Arg732Pro
ENST00000370224.5:c.2241+62G>C	ENSP00000359244.2:n.2241+62G>C
ENST00000625514.2:c.2205+62G>C	ENSP00000486040.1:n.2205+62G>C
ENST00000626839.2:c.2225G>C	ENSP00000486706.1:p.Arg742Pro
ENST00000629241.2:c.2133+62G>C	ENSP00000487142.1:n.2133+62G>C
ENST00000629676.2:c.1680-6141G>C	ENSP00000486194.1:n.1680-6141G>C
NM_004518.4:c.2195G>C	NP_004509.2:p.Arg732Pro
NM_172106.1:c.2225G>C	NP_742104.1:p.Arg742Pro
NM_172107.2:c.2279G>C	NP_742105.1:p.Arg760Pro
NM_172108.3:c.2186G>C	NP_742106.1:p.Arg729Pro
XM_006723787.1:c.2321G>C	XP_006723850.1:p.Arg774Pro
XM_011528807.1:c.2387G>C	XP_011527109.1:p.Arg796Pro
XM_011528808.1:c.2384G>C	XP_011527110.1:p.Arg795Pro
XM_011528809.1:c.2357G>C	XP_011527111.1:p.Arg786Pro
XM_011528810.1:c.2333G>C	XP_011527112.1:p.Arg778Pro
XM_011528811.1:c.2303G>C	XP_011527113.1:p.Arg768Pro
XM_011528812.1:c.2276G>C	XP_011527114.1:p.Arg759Pro
XM_011528813.1:c.2261G>C	XP_011527115.1:p.Arg754Pro
XM_011528814.1:c.1868G>C	XP_011527116.1:p.Arg623Pro
NM_004518.5:c.2195G>C	NP_004509.2:p.Arg732Pro
NM_172106.2:c.2225G>C	NP_742104.1:p.Arg742Pro
NM_172107.3:c.2279G>C	NP_742105.1:p.Arg760Pro
NM_172108.4:c.2186G>C	NP_742106.1:p.Arg729Pro
XM_011528810.2:c.2333G>C	XP_011527112.1:p.Arg778Pro
XM_011528811.2:c.2303G>C	XP_011527113.1:p.Arg768Pro
XM_017027841.2:c.2330G>C	XP_016883330.1:p.Arg777Pro
XM_017027842.2:c.2267G>C	XP_016883331.1:p.Arg756Pro
XM_017027843.1:c.2264G>C	XP_016883332.1:p.Arg755Pro
XM_017027844.2:c.2222G>C	XP_016883333.1:p.Arg741Pro
XM_017027845.1:c.1295G>C	XP_016883334.1:p.Arg432Pro
NM_004518.6:c.2195G>C	NP_004509.2:p.Arg732Pro
NM_172106.3:c.2225G>C	NP_742104.1:p.Arg742Pro
NM_172107.4:c.2279G>C MANE Select	NP_742105.1:p.Arg760Pro
NM_172108.5:c.2186G>C	NP_742106.1:p.Arg729Pro
NM_001382235.1:c.2333G>C	NP_001369164.1:p.Arg778Pro