Canonical Allele Identifier: CA409637026

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2079951016
• MyVariant Identifiers: chr20:g.62038166A>G (hg19) ; chr20:g.63406813A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406813A>G , CM000682.2:g.63406813A>G	GRCh38
NC_000020.10:g.62038166A>G , CM000682.1:g.62038166A>G	GRCh37
NC_000020.9:g.61508610A>G	NCBI36
NG_009004.1:g.70828T>C
NG_009004.2:g.70828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2504T>C	ENSP00000516702.1:p.Leu835Pro
ENST00000359125.7:c.2450T>C MANE Select	ENSP00000352035.2:p.Leu817Pro
ENST00000637193.1:c.1847T>C	ENSP00000490734.1:p.Leu616Pro
ENST00000344462.8:c.2357T>C	ENSP00000339611.4:p.Leu786Pro
ENST00000357249.6:c.2018T>C	ENSP00000349789.3:p.Leu673Pro
ENST00000359125.6:c.2450T>C	ENSP00000352035.2:p.Leu817Pro
ENST00000360480.7:c.2366T>C	ENSP00000353668.3:p.Leu789Pro
ENST00000370224.5:c.2241+233T>C	ENSP00000359244.2:n.2241+233T>C
ENST00000625514.2:c.2205+233T>C	ENSP00000486040.1:n.2205+233T>C
ENST00000626839.2:c.2396T>C	ENSP00000486706.1:p.Leu799Pro
ENST00000629241.2:c.2133+233T>C	ENSP00000487142.1:n.2133+233T>C
ENST00000629676.2:c.1680-5970T>C	ENSP00000486194.1:n.1680-5970T>C
NM_004518.4:c.2366T>C	NP_004509.2:p.Leu789Pro
NM_172106.1:c.2396T>C	NP_742104.1:p.Leu799Pro
NM_172107.2:c.2450T>C	NP_742105.1:p.Leu817Pro
NM_172108.3:c.2357T>C	NP_742106.1:p.Leu786Pro
XM_006723787.1:c.2492T>C	XP_006723850.1:p.Leu831Pro
XM_011528807.1:c.2558T>C	XP_011527109.1:p.Leu853Pro
XM_011528808.1:c.2555T>C	XP_011527110.1:p.Leu852Pro
XM_011528809.1:c.2528T>C	XP_011527111.1:p.Leu843Pro
XM_011528810.1:c.2504T>C	XP_011527112.1:p.Leu835Pro
XM_011528811.1:c.2474T>C	XP_011527113.1:p.Leu825Pro
XM_011528812.1:c.2447T>C	XP_011527114.1:p.Leu816Pro
XM_011528813.1:c.2432T>C	XP_011527115.1:p.Leu811Pro
XM_011528814.1:c.2039T>C	XP_011527116.1:p.Leu680Pro
NM_004518.5:c.2366T>C	NP_004509.2:p.Leu789Pro
NM_172106.2:c.2396T>C	NP_742104.1:p.Leu799Pro
NM_172107.3:c.2450T>C	NP_742105.1:p.Leu817Pro
NM_172108.4:c.2357T>C	NP_742106.1:p.Leu786Pro
XM_011528810.2:c.2504T>C	XP_011527112.1:p.Leu835Pro
XM_011528811.2:c.2474T>C	XP_011527113.1:p.Leu825Pro
XM_017027841.2:c.2501T>C	XP_016883330.1:p.Leu834Pro
XM_017027842.2:c.2438T>C	XP_016883331.1:p.Leu813Pro
XM_017027843.1:c.2435T>C	XP_016883332.1:p.Leu812Pro
XM_017027844.2:c.2393T>C	XP_016883333.1:p.Leu798Pro
XM_017027845.1:c.1466T>C	XP_016883334.1:p.Leu489Pro
NM_004518.6:c.2366T>C	NP_004509.2:p.Leu789Pro
NM_172106.3:c.2396T>C	NP_742104.1:p.Leu799Pro
NM_172107.4:c.2450T>C MANE Select	NP_742105.1:p.Leu817Pro
NM_172108.5:c.2357T>C	NP_742106.1:p.Leu786Pro
NM_001382235.1:c.2504T>C	NP_001369164.1:p.Leu835Pro