Canonical Allele Identifier: CA6117307

Gene: KLC2 KLC2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66264337G>A , CM000673.2:g.66264337G>A	GRCh38
NC_000011.9:g.66031808G>A , CM000673.1:g.66031808G>A	GRCh37
NC_000011.8:g.65788384G>A	NCBI36
NG_046774.1:g.12044G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001318734.2:c.1117-8G>A (KLC2) MANE Select	NP_001305663.1:n.1117-8G>A
ENST00000394067.7:c.1117-8G>A (KLC2) MANE Select	ENSP00000377631.2:n.1117-8G>A
NM_001134774.1:c.886-8G>A (KLC2)	NP_001128246.1:n.886-8G>A
NM_001134774.2:c.886-8G>A (KLC2)	NP_001128246.1:n.886-8G>A
NM_001134775.1:c.1117-8G>A (KLC2)	NP_001128247.1:n.1117-8G>A
NM_001134775.2:c.1117-8G>A (KLC2)	NP_001128247.1:n.1117-8G>A
NM_001134776.1:c.1117-8G>A (KLC2)	NP_001128248.1:n.1117-8G>A
NM_001134776.2:c.1117-8G>A (KLC2)	NP_001128248.1:n.1117-8G>A
NM_001318734.1:c.1117-8G>A (KLC2)	NP_001305663.1:n.1117-8G>A
NM_022822.2:c.1117-8G>A (KLC2)	NP_073733.1:n.1117-8G>A
NM_022822.3:c.1117-8G>A (KLC2)	NP_073733.1:n.1117-8G>A
ENST00000316924.9:c.1117-8G>A (KLC2)	ENSP00000314837.5:n.1117-8G>A
ENST00000394065.2:c.700-8G>A (KLC2)	ENSP00000377629.2:n.700-8G>A
ENST00000394066.6:c.886-8G>A (KLC2)	ENSP00000377630.2:n.886-8G>A
ENST00000394067.6:c.1117-8G>A (KLC2)	ENSP00000377631.2:n.1117-8G>A
ENST00000394078.5:c.752+1301G>A (KLC2)	ENSP00000377641.1:n.752+1301G>A
ENST00000417856.5:c.1117-8G>A (KLC2)	ENSP00000399403.1:n.1117-8G>A
ENST00000421552.5:c.886-8G>A (KLC2)	ENSP00000408484.1:n.886-8G>A
XM_005274182.1:c.1117-8G>A (KLC2)	XP_005274239.1:n.1117-8G>A
XM_005274183.1:c.1117-8G>A (KLC2)	XP_005274240.1:n.1117-8G>A
XM_005274184.1:c.1117-8G>A (KLC2)	XP_005274241.1:n.1117-8G>A
XM_006718665.1:c.1117-8G>A (KLC2)	XP_006718728.1:n.1117-8G>A
XM_017018133.1:c.526-8G>A (KLC2)	XP_016873622.1:n.526-8G>A
XM_024448657.1:c.1117-8G>A (KLC2)	XP_024304425.1:n.1117-8G>A
XR_001748271.2:n.542+367C>T (KLC2-AS1)
XR_001748272.1:n.542+367C>T (KLC2-AS1)
XR_001748273.1:n.542+367C>T (KLC2-AS1)
XR_950215.1:n.552+367C>T (KLC2-AS1)
XR_950215.2:n.542+367C>T (KLC2-AS1)
XR_950216.1:n.553-97C>T (KLC2-AS1)
XR_950216.2:n.553-97C>T (KLC2-AS1)
XR_950217.1:n.571+367C>T (KLC2-AS1)
XR_950217.2:n.571+367C>T (KLC2-AS1)