Canonical Allele Identifier: CA380064918
Gene: LUZP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.24983290C>A , CM000673.2:g.24983290C>A GRCh38
NC_000011.9:g.25004836C>A , CM000673.1:g.25004836C>A GRCh37
NC_000011.8:g.24961412C>A NCBI36
NG_030588.1:g.491321C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336930.11:c.762C>A MANE Select ENSP00000336817.6:p.Ser254Arg
ENST00000336930.10:c.762C>A ENSP00000336817.6:p.Ser254Arg
ENST00000533227.5:c.504C>A ENSP00000432952.1:p.Ser168Arg
ENST00000620308.1:c.504C>A ENSP00000480441.1:p.Ser168Arg
NM_001009909.3:c.762C>A NP_001009909.2:p.Ser254Arg
NM_001252008.1:c.504C>A NP_001238937.1:p.Ser168Arg
NM_001252010.1:c.636C>A NP_001238939.1:p.Ser212Arg
XM_011520054.1:c.1140C>A XP_011518356.1:p.Ser380Arg
XM_017017648.2:c.1140C>A XP_016873137.2:p.Ser380Arg
XM_024448468.1:c.1140C>A XP_024304236.1:p.Ser380Arg
NM_001009909.4:c.762C>A MANE Select NP_001009909.2:p.Ser254Arg
NM_001252008.2:c.504C>A NP_001238937.1:p.Ser168Arg
NM_001252010.2:c.636C>A NP_001238939.1:p.Ser212Arg