Canonical Allele Identifier: CA2609210242
Gene: MBL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771717C>G , CM000672.2:g.52771717C>G GRCh38
NC_000010.10:g.54531477C>G , CM000672.1:g.54531477C>G GRCh37
NC_000010.9:g.54201483C>G NCBI36
NG_008196.1:g.4984G>C , LRG_154:g.4984G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-73G>C MANE Select ENSP00000502789.1:n.-9-73G>C
ENST00000675947.1:c.-24-58G>C ENSP00000502615.1:n.-24-58G>C
XM_006717861.2:c.-24-58G>C XP_006717924.1:n.-24-58G>C
XM_011539816.1:c.-9-73G>C XP_011538118.1:n.-9-73G>C
XM_006717861.4:c.-24-58G>C XP_006717924.1:n.-24-58G>C
XM_011539816.3:c.-9-73G>C XP_011538118.1:n.-9-73G>C
NM_001378373.1:c.-9-73G>C MANE Select NP_001365302.1:n.-9-73G>C
NM_001378374.1:c.-24-58G>C NP_001365303.1:n.-24-58G>C