Canonical Allele Identifier: CA409646740
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2882091
ClinVar RCV Id: RCV003752887
dbSNP Id: rs2080245099

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63415064T>C , CM000682.2:g.63415064T>C GRCh38
NC_000020.10:g.62046417T>C , CM000682.1:g.62046417T>C GRCh37
NC_000020.9:g.61516861T>C NCBI36
NG_009004.1:g.62577A>G
NG_009004.2:g.62577A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.1310A>G ENSP00000516702.1:p.Lys437Arg
ENST00000359125.7:c.1364A>G MANE Select ENSP00000352035.2:p.Lys455Arg
ENST00000637193.1:c.761A>G ENSP00000490734.1:p.Lys254Arg
ENST00000344462.8:c.1274A>G ENSP00000339611.4:p.Lys425Arg
ENST00000357249.6:c.932A>G ENSP00000349789.3:p.Lys311Arg
ENST00000359125.6:c.1364A>G ENSP00000352035.2:p.Lys455Arg
ENST00000360480.7:c.1280A>G ENSP00000353668.3:p.Lys427Arg
ENST00000370224.5:c.1280A>G ENSP00000359244.2:p.Lys427Arg
ENST00000625514.2:c.1244A>G ENSP00000486040.1:p.Lys415Arg
ENST00000626839.2:c.1310A>G ENSP00000486706.1:p.Lys437Arg
ENST00000627221.2:c.424A>G
ENST00000629241.2:c.1280A>G ENSP00000487142.1:p.Lys427Arg
ENST00000629676.2:c.1280A>G ENSP00000486194.1:p.Lys427Arg
NM_004518.4:c.1280A>G NP_004509.2:p.Lys427Arg
NM_172106.1:c.1310A>G NP_742104.1:p.Lys437Arg
NM_172107.2:c.1364A>G NP_742105.1:p.Lys455Arg
NM_172108.3:c.1274A>G NP_742106.1:p.Lys425Arg
XM_006723787.1:c.1364A>G XP_006723850.1:p.Lys455Arg
XM_011528807.1:c.1364A>G XP_011527109.1:p.Lys455Arg
XM_011528808.1:c.1364A>G XP_011527110.1:p.Lys455Arg
XM_011528809.1:c.1334A>G XP_011527111.1:p.Lys445Arg
XM_011528810.1:c.1310A>G XP_011527112.1:p.Lys437Arg
XM_011528811.1:c.1280A>G XP_011527113.1:p.Lys427Arg
XM_011528812.1:c.1364A>G XP_011527114.1:p.Lys455Arg
XM_011528813.1:c.1238A>G XP_011527115.1:p.Lys413Arg
XM_011528814.1:c.845A>G XP_011527116.1:p.Lys282Arg
XM_011528815.1:c.1364A>G XP_011527117.1:p.Lys455Arg
NM_004518.5:c.1280A>G NP_004509.2:p.Lys427Arg
NM_172106.2:c.1310A>G NP_742104.1:p.Lys437Arg
NM_172107.3:c.1364A>G NP_742105.1:p.Lys455Arg
NM_172108.4:c.1274A>G NP_742106.1:p.Lys425Arg
XM_011528810.2:c.1310A>G XP_011527112.1:p.Lys437Arg
XM_011528811.2:c.1280A>G XP_011527113.1:p.Lys427Arg
XM_017027841.2:c.1310A>G XP_016883330.1:p.Lys437Arg
XM_017027842.2:c.1310A>G XP_016883331.1:p.Lys437Arg
XM_017027843.1:c.1241A>G XP_016883332.1:p.Lys414Arg
XM_017027844.2:c.1310A>G XP_016883333.1:p.Lys437Arg
XM_017027845.1:c.272A>G XP_016883334.1:p.Lys91Arg
NM_004518.6:c.1280A>G NP_004509.2:p.Lys427Arg
NM_172106.3:c.1310A>G NP_742104.1:p.Lys437Arg
NM_172107.4:c.1364A>G MANE Select NP_742105.1:p.Lys455Arg
NM_172108.5:c.1274A>G NP_742106.1:p.Lys425Arg
NM_001382235.1:c.1310A>G NP_001369164.1:p.Lys437Arg