Canonical Allele Identifier: CA928437814
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs1840403989
gnomAD v3: 10-52772132-TGG-T
gnomAD v4: 10-52772132-TGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772133_52772134del , CM000672.2:g.52772133_52772134del GRCh38
NC_000010.10:g.54531893_54531894del , CM000672.1:g.54531893_54531894del GRCh37
NC_000010.9:g.54201899_54201900del NCBI36
NG_008196.1:g.4567_4568del , LRG_154:g.4567_4568del

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-9-490_-9-489del MANE Select ENSP00000502789.1:n.-9-490_-9-489del
ENST00000675947.1:c.-24-475_-24-474del ENSP00000502615.1:n.-24-475_-24-474del
XM_006717861.2:c.-24-475_-24-474del XP_006717924.1:n.-24-475_-24-474del
XM_011539816.1:c.-9-490_-9-489del XP_011538118.1:n.-9-490_-9-489del
XM_006717861.4:c.-24-475_-24-474del XP_006717924.1:n.-24-475_-24-474del
XM_011539816.3:c.-9-490_-9-489del XP_011538118.1:n.-9-490_-9-489del
NM_001378373.1:c.-9-490_-9-489del MANE Select NP_001365302.1:n.-9-490_-9-489del
NM_001378374.1:c.-24-475_-24-474del NP_001365303.1:n.-24-475_-24-474del
Search 100 bp 5'
Search 100 bp 3'