Canonical Allele Identifier: CA1910259676
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs1840405076

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772185_52772195dup , CM000672.2:g.52772185_52772195dup GRCh38
NC_000010.10:g.54531945_54531955dup , CM000672.1:g.54531945_54531955dup GRCh37
NC_000010.9:g.54201951_54201961dup NCBI36
NG_008196.1:g.4515_4525dup , LRG_154:g.4515_4525dup

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-9-542_-9-532dup MANE Select ENSP00000502789.1:n.-9-542_-9-532dup
ENST00000675947.1:c.-24-527_-24-517dup ENSP00000502615.1:n.-24-527_-24-517dup
XM_006717861.2:c.-24-527_-24-517dup XP_006717924.1:n.-24-527_-24-517dup
XM_011539816.1:c.-9-542_-9-532dup XP_011538118.1:n.-9-542_-9-532dup
XM_006717861.4:c.-24-527_-24-517dup XP_006717924.1:n.-24-527_-24-517dup
XM_011539816.3:c.-9-542_-9-532dup XP_011538118.1:n.-9-542_-9-532dup
NM_001378373.1:c.-9-542_-9-532dup MANE Select NP_001365302.1:n.-9-542_-9-532dup
NM_001378374.1:c.-24-527_-24-517dup NP_001365303.1:n.-24-527_-24-517dup