Canonical Allele Identifier: CA593572963
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs1332169399
gnomAD v2: 10-54531850-AG-A
MyVariant Identifiers: chr10:g.54531851del (hg19) chr10:g.52772091del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772091del , CM000672.2:g.52772091del GRCh38
NC_000010.10:g.54531851del , CM000672.1:g.54531851del GRCh37
NC_000010.9:g.54201857del NCBI36
NG_008196.1:g.4610del , LRG_154:g.4610del

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-9-447del MANE Select ENSP00000502789.1:n.-9-447del
ENST00000675947.1:c.-24-432del ENSP00000502615.1:n.-24-432del
XM_006717861.2:c.-24-432del XP_006717924.1:n.-24-432del
XM_011539816.1:c.-9-447del XP_011538118.1:n.-9-447del
XM_006717861.4:c.-24-432del XP_006717924.1:n.-24-432del
XM_011539816.3:c.-9-447del XP_011538118.1:n.-9-447del
NM_001378373.1:c.-9-447del MANE Select NP_001365302.1:n.-9-447del
NM_001378374.1:c.-24-432del NP_001365303.1:n.-24-432del
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