Canonical Allele Identifier: CA2609210227
Gene: MBL2 HGNC NCBI

Linked Data

gnomAD v4: 10-52771694-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771697del , CM000672.2:g.52771697del GRCh38
NC_000010.10:g.54531457del , CM000672.1:g.54531457del GRCh37
NC_000010.9:g.54201463del NCBI36
NG_008196.1:g.5006del , LRG_154:g.5006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-51del MANE Select ENSP00000502789.1:n.-9-51del
ENST00000675947.1:c.-24-36del ENSP00000502615.1:n.-24-36del
ENST00000373968.3:c.-60del ENSP00000363079.3:n.-60del
NM_000242.2:c.-60del , LRG_154t1:c.-60del NP_000233.1:n.-60del
XM_006717861.2:c.-24-36del XP_006717924.1:n.-24-36del
XM_011539816.1:c.-9-51del XP_011538118.1:n.-9-51del
XM_006717861.4:c.-24-36del XP_006717924.1:n.-24-36del
XM_011539816.3:c.-9-51del XP_011538118.1:n.-9-51del
NM_001378373.1:c.-9-51del MANE Select NP_001365302.1:n.-9-51del
NM_001378374.1:c.-24-36del NP_001365303.1:n.-24-36del
Search 100 bp 5'
Search 100 bp 3'