Canonical Allele Identifier: CA5504429
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs775647344

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771504del , CM000672.2:g.52771504del GRCh38
NC_000010.10:g.54531264del , CM000672.1:g.54531264del GRCh37
NC_000010.9:g.54201270del NCBI36
NG_008196.1:g.5197del , LRG_154:g.5197del

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.132del MANE Select ENSP00000502789.1:p.Asn44LysfsTer?
ENST00000675947.1:c.132del ENSP00000502615.1:p.Asn44LysfsTer?
ENST00000373968.3:c.132del ENSP00000363079.3:p.Asn44LysfsTer?
NM_000242.2:c.132del , LRG_154t1:c.132del NP_000233.1:p.Asn44LysfsTer?
XM_006717861.2:c.132del XP_006717924.1:p.Asn44LysfsTer?
XM_011539816.1:c.132del XP_011538118.1:p.Asn44LysfsTer?
XM_006717861.4:c.132del XP_006717924.1:p.Asn44LysfsTer?
XM_011539816.3:c.132del XP_011538118.1:p.Asn44LysfsTer?
NM_000242.3:c.132del NP_000233.1:p.Asn44LysfsTer?
NM_001378373.1:c.132del MANE Select NP_001365302.1:p.Asn44LysfsTer?
NM_001378374.1:c.132del NP_001365303.1:p.Asn44LysfsTer?