Canonical Allele Identifier: CA666361226
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs1239765582
MyVariant Identifiers: chr10:g.54531893_54531899del (hg19) chr10:g.52772133_52772139del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772133_52772139del , CM000672.2:g.52772133_52772139del GRCh38
NC_000010.10:g.54531893_54531899del , CM000672.1:g.54531893_54531899del GRCh37
NC_000010.9:g.54201899_54201905del NCBI36
NG_008196.1:g.4562_4568del , LRG_154:g.4562_4568del

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-9-495_-9-489del MANE Select ENSP00000502789.1:n.-9-495_-9-489del
ENST00000675947.1:c.-24-480_-24-474del ENSP00000502615.1:n.-24-480_-24-474del
XM_006717861.2:c.-24-480_-24-474del XP_006717924.1:n.-24-480_-24-474del
XM_011539816.1:c.-9-495_-9-489del XP_011538118.1:n.-9-495_-9-489del
XM_006717861.4:c.-24-480_-24-474del XP_006717924.1:n.-24-480_-24-474del
XM_011539816.3:c.-9-495_-9-489del XP_011538118.1:n.-9-495_-9-489del
NM_001378373.1:c.-9-495_-9-489del MANE Select NP_001365302.1:n.-9-495_-9-489del
NM_001378374.1:c.-24-480_-24-474del NP_001365303.1:n.-24-480_-24-474del
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