Canonical Allele Identifier: CA245001994
Gene: MAP1LC3B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116564853G>A , CM000674.2:g.116564853G>A GRCh38
NC_000012.11:g.117002658G>A , CM000674.1:g.117002658G>A GRCh37
NC_000012.10:g.115487041G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000556529.4:c.-102+5420G>A MANE Select ENSP00000450524.1:n.-102+5420G>A
ENST00000556529.2:c.-102+5420G>A ENSP00000450524.1:n.-102+5420G>A
NM_001085481.1:c.-102+5420G>A NP_001078950.1:n.-102+5420G>A
XM_011538652.1:c.220+5420G>A XP_011536954.1:n.220+5420G>A
NM_001085481.2:c.-102+5420G>A NP_001078950.1:n.-102+5420G>A
NM_001085481.3:c.-102+5420G>A MANE Select NP_001078950.1:n.-102+5420G>A