Canonical Allele Identifier: CA6117246
Gene: KLC2 HGNC NCBI
KLC2-AS1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66263931G>A , CM000673.2:g.66263931G>A GRCh38
NC_000011.9:g.66031402G>A , CM000673.1:g.66031402G>A GRCh37
NC_000011.8:g.65787978G>A NCBI36
NG_046774.1:g.11638G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394067.7:c.921G>A (KLC2) MANE Select ENSP00000377631.2:p.Arg307=
ENST00000316924.9:c.921G>A (KLC2) ENSP00000314837.5:p.Arg307=
ENST00000394065.2:c.504G>A (KLC2) ENSP00000377629.2:p.Arg168=
ENST00000394066.6:c.690G>A (KLC2) ENSP00000377630.2:p.Arg230=
ENST00000394067.6:c.921G>A (KLC2) ENSP00000377631.2:p.Arg307=
ENST00000394078.5:c.752+895G>A (KLC2) ENSP00000377641.1:n.752+895G>A
ENST00000417856.5:c.921G>A (KLC2) ENSP00000399403.1:p.Arg307=
ENST00000421552.5:c.690G>A (KLC2) ENSP00000408484.1:p.Arg230=
NM_001134774.1:c.690G>A (KLC2) NP_001128246.1:p.Arg230=
NM_001134775.1:c.921G>A (KLC2) NP_001128247.1:p.Arg307=
NM_001134776.1:c.921G>A (KLC2) NP_001128248.1:p.Arg307=
NM_022822.2:c.921G>A (KLC2) NP_073733.1:p.Arg307=
XM_005274182.1:c.921G>A (KLC2) XP_005274239.1:p.Arg307=
XM_005274183.1:c.921G>A (KLC2) XP_005274240.1:p.Arg307=
XM_005274184.1:c.921G>A (KLC2) XP_005274241.1:p.Arg307=
XM_006718665.1:c.921G>A (KLC2) XP_006718728.1:p.Arg307=
XR_950215.1:n.553-51C>T (KLC2-AS1)
XR_950216.1:n.570-51C>T (KLC2-AS1)
XR_950217.1:n.572-51C>T (KLC2-AS1)
NM_001318734.1:c.921G>A (KLC2) NP_001305663.1:p.Arg307=
XM_017018133.1:c.330G>A (KLC2) XP_016873622.1:p.Arg110=
XM_024448657.1:c.921G>A (KLC2) XP_024304425.1:p.Arg307=
XR_001748271.2:n.543-51C>T (KLC2-AS1)
XR_001748272.1:n.543-51C>T (KLC2-AS1)
XR_001748273.1:n.543-51C>T (KLC2-AS1)
XR_950215.2:n.543-51C>T (KLC2-AS1)
XR_950216.2:n.570-51C>T (KLC2-AS1)
XR_950217.2:n.572-51C>T (KLC2-AS1)
NM_001134776.2:c.921G>A (KLC2) NP_001128248.1:p.Arg307=
NM_001318734.2:c.921G>A (KLC2) MANE Select NP_001305663.1:p.Arg307=
NM_022822.3:c.921G>A (KLC2) NP_073733.1:p.Arg307=
NM_001134774.2:c.690G>A (KLC2) NP_001128246.1:p.Arg230=
NM_001134775.2:c.921G>A (KLC2) NP_001128247.1:p.Arg307=