Canonical Allele Identifier: CA409637214

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038206C>G (hg19) ; chr20:g.63406853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406853C>G , CM000682.2:g.63406853C>G	GRCh38
NC_000020.10:g.62038206C>G , CM000682.1:g.62038206C>G	GRCh37
NC_000020.9:g.61508650C>G	NCBI36
NG_009004.1:g.70788G>C
NG_009004.2:g.70788G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2464G>C	ENSP00000516702.1:p.Gly822Arg
ENST00000359125.7:c.2410G>C MANE Select	ENSP00000352035.2:p.Gly804Arg
ENST00000637193.1:c.1807G>C	ENSP00000490734.1:p.Gly603Arg
ENST00000344462.8:c.2317G>C	ENSP00000339611.4:p.Gly773Arg
ENST00000357249.6:c.1978G>C	ENSP00000349789.3:p.Gly660Arg
ENST00000359125.6:c.2410G>C	ENSP00000352035.2:p.Gly804Arg
ENST00000360480.7:c.2326G>C	ENSP00000353668.3:p.Gly776Arg
ENST00000370224.5:c.2241+193G>C	ENSP00000359244.2:n.2241+193G>C
ENST00000625514.2:c.2205+193G>C	ENSP00000486040.1:n.2205+193G>C
ENST00000626839.2:c.2356G>C	ENSP00000486706.1:p.Gly786Arg
ENST00000629241.2:c.2133+193G>C	ENSP00000487142.1:n.2133+193G>C
ENST00000629676.2:c.1680-6010G>C	ENSP00000486194.1:n.1680-6010G>C
NM_004518.4:c.2326G>C	NP_004509.2:p.Gly776Arg
NM_172106.1:c.2356G>C	NP_742104.1:p.Gly786Arg
NM_172107.2:c.2410G>C	NP_742105.1:p.Gly804Arg
NM_172108.3:c.2317G>C	NP_742106.1:p.Gly773Arg
XM_006723787.1:c.2452G>C	XP_006723850.1:p.Gly818Arg
XM_011528807.1:c.2518G>C	XP_011527109.1:p.Gly840Arg
XM_011528808.1:c.2515G>C	XP_011527110.1:p.Gly839Arg
XM_011528809.1:c.2488G>C	XP_011527111.1:p.Gly830Arg
XM_011528810.1:c.2464G>C	XP_011527112.1:p.Gly822Arg
XM_011528811.1:c.2434G>C	XP_011527113.1:p.Gly812Arg
XM_011528812.1:c.2407G>C	XP_011527114.1:p.Gly803Arg
XM_011528813.1:c.2392G>C	XP_011527115.1:p.Gly798Arg
XM_011528814.1:c.1999G>C	XP_011527116.1:p.Gly667Arg
NM_004518.5:c.2326G>C	NP_004509.2:p.Gly776Arg
NM_172106.2:c.2356G>C	NP_742104.1:p.Gly786Arg
NM_172107.3:c.2410G>C	NP_742105.1:p.Gly804Arg
NM_172108.4:c.2317G>C	NP_742106.1:p.Gly773Arg
XM_011528810.2:c.2464G>C	XP_011527112.1:p.Gly822Arg
XM_011528811.2:c.2434G>C	XP_011527113.1:p.Gly812Arg
XM_017027841.2:c.2461G>C	XP_016883330.1:p.Gly821Arg
XM_017027842.2:c.2398G>C	XP_016883331.1:p.Gly800Arg
XM_017027843.1:c.2395G>C	XP_016883332.1:p.Gly799Arg
XM_017027844.2:c.2353G>C	XP_016883333.1:p.Gly785Arg
XM_017027845.1:c.1426G>C	XP_016883334.1:p.Gly476Arg
NM_004518.6:c.2326G>C	NP_004509.2:p.Gly776Arg
NM_172106.3:c.2356G>C	NP_742104.1:p.Gly786Arg
NM_172107.4:c.2410G>C MANE Select	NP_742105.1:p.Gly804Arg
NM_172108.5:c.2317G>C	NP_742106.1:p.Gly773Arg
NM_001382235.1:c.2464G>C	NP_001369164.1:p.Gly822Arg