Canonical Allele Identifier: CA666360364
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs1265085059

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771382_52771384del , CM000672.2:g.52771382_52771384del GRCh38
NC_000010.10:g.54531142_54531144del , CM000672.1:g.54531142_54531144del GRCh37
NC_000010.9:g.54201148_54201150del NCBI36
NG_008196.1:g.5320_5322del , LRG_154:g.5320_5322del

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.187+68_187+70del MANE Select ENSP00000502789.1:n.187+68_187+70del
ENST00000675947.1:c.187+68_187+70del ENSP00000502615.1:n.187+68_187+70del
ENST00000373968.3:c.187+68_187+70del ENSP00000363079.3:n.187+68_187+70del
NM_000242.2:c.187+68_187+70del , LRG_154t1:c.187+68_187+70del NP_000233.1:n.187+68_187+70del
XM_006717861.2:c.187+68_187+70del XP_006717924.1:n.187+68_187+70del
XM_011539816.1:c.187+68_187+70del XP_011538118.1:n.187+68_187+70del
XM_006717861.4:c.187+68_187+70del XP_006717924.1:n.187+68_187+70del
XM_011539816.3:c.187+68_187+70del XP_011538118.1:n.187+68_187+70del
NM_000242.3:c.187+68_187+70del NP_000233.1:n.187+68_187+70del
NM_001378373.1:c.187+68_187+70del MANE Select NP_001365302.1:n.187+68_187+70del
NM_001378374.1:c.187+68_187+70del NP_001365303.1:n.187+68_187+70del