Canonical Allele Identifier: CA13836581
Gene: UBAC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.99280668G>A , CM000675.2:g.99280668G>A GRCh38
NC_000013.10:g.99932922G>A , CM000675.1:g.99932922G>A GRCh37
NC_000013.9:g.98730923G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000403766.8:c.390-33429G>A MANE Select ENSP00000383911.3:n.390-33429G>A
ENST00000355700.9:c.159+42114G>A ENSP00000347928.5:n.159+42114G>A
ENST00000376440.6:c.285-33429G>A ENSP00000365623.2:n.285-33429G>A
ENST00000403766.7:c.390-33429G>A ENSP00000383911.3:n.390-33429G>A
ENST00000468067.5:n.551-33429G>A
ENST00000473091.5:n.487-33429G>A
ENST00000494576.5:n.111-33429G>A
NM_001144072.1:c.390-33429G>A NP_001137544.1:n.390-33429G>A
NM_177967.3:c.285-33429G>A NP_808882.1:n.285-33429G>A
NR_026644.1:n.1018-33429G>A
XM_006719947.1:c.390-33429G>A XP_006720010.1:n.390-33429G>A
XM_006719948.2:c.51-33429G>A XP_006720011.1:n.51-33429G>A
XM_011521082.1:c.309-33429G>A XP_011519384.1:n.309-33429G>A
XM_011521083.1:c.234-33429G>A XP_011519385.1:n.234-33429G>A
XM_011521084.1:c.51-33429G>A XP_011519386.1:n.51-33429G>A
XR_931613.1:n.519-33429G>A
XM_006719948.3:c.51-33429G>A XP_006720011.1:n.51-33429G>A
XM_011521082.2:c.309-33429G>A XP_011519384.1:n.309-33429G>A
XM_011521083.2:c.234-33429G>A XP_011519385.1:n.234-33429G>A
NM_001144072.2:c.390-33429G>A MANE Select NP_001137544.1:n.390-33429G>A
NM_177967.4:c.285-33429G>A NP_808882.1:n.285-33429G>A
NR_026644.2:n.1073-33429G>A