Canonical Allele Identifier: CA593573111
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs1255439546

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772183_52772199del , CM000672.2:g.52772183_52772199del GRCh38
NC_000010.10:g.54531943_54531959del , CM000672.1:g.54531943_54531959del GRCh37
NC_000010.9:g.54201949_54201965del NCBI36
NG_008196.1:g.4510_4526del , LRG_154:g.4510_4526del

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-9-547_-9-531del MANE Select ENSP00000502789.1:n.-9-547_-9-531del
ENST00000675947.1:c.-24-532_-24-516del ENSP00000502615.1:n.-24-532_-24-516del
XM_006717861.2:c.-24-532_-24-516del XP_006717924.1:n.-24-532_-24-516del
XM_011539816.1:c.-9-547_-9-531del XP_011538118.1:n.-9-547_-9-531del
XM_006717861.4:c.-24-532_-24-516del XP_006717924.1:n.-24-532_-24-516del
XM_011539816.3:c.-9-547_-9-531del XP_011538118.1:n.-9-547_-9-531del
NM_001378373.1:c.-9-547_-9-531del MANE Select NP_001365302.1:n.-9-547_-9-531del
NM_001378374.1:c.-24-532_-24-516del NP_001365303.1:n.-24-532_-24-516del