Canonical Allele Identifier: CA1910259322
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs2089583488

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771485del , CM000672.2:g.52771485del GRCh38
NC_000010.10:g.54531245del , CM000672.1:g.54531245del GRCh37
NC_000010.9:g.54201251del NCBI36
NG_008196.1:g.5218del , LRG_154:g.5218del

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.153del MANE Select ENSP00000502789.1:p.Arg52ValfsTer?
ENST00000675947.1:c.153del ENSP00000502615.1:p.Arg52ValfsTer?
ENST00000373968.3:c.153del ENSP00000363079.3:p.Arg52ValfsTer?
NM_000242.2:c.153del , LRG_154t1:c.153del NP_000233.1:p.Arg52ValfsTer?
XM_006717861.2:c.153del XP_006717924.1:p.Arg52ValfsTer?
XM_011539816.1:c.153del XP_011538118.1:p.Arg52ValfsTer?
XM_006717861.4:c.153del XP_006717924.1:p.Arg52ValfsTer?
XM_011539816.3:c.153del XP_011538118.1:p.Arg52ValfsTer?
NM_000242.3:c.153del NP_000233.1:p.Arg52ValfsTer?
NM_001378373.1:c.153del MANE Select NP_001365302.1:p.Arg52ValfsTer?
NM_001378374.1:c.153del NP_001365303.1:p.Arg52ValfsTer?