Canonical Allele Identifier: CA2788008332
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771725T>G , CM000672.2:g.52771725T>G GRCh38
NC_000010.10:g.54531485T>G , CM000672.1:g.54531485T>G GRCh37
NC_000010.9:g.54201491T>G NCBI36
NG_008196.1:g.4976A>C , LRG_154:g.4976A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-81A>C MANE Select ENSP00000502789.1:n.-9-81A>C
ENST00000675947.1:c.-24-66A>C ENSP00000502615.1:n.-24-66A>C
XM_006717861.2:c.-24-66A>C XP_006717924.1:n.-24-66A>C
XM_011539816.1:c.-9-81A>C XP_011538118.1:n.-9-81A>C
XM_006717861.4:c.-24-66A>C XP_006717924.1:n.-24-66A>C
XM_011539816.3:c.-9-81A>C XP_011538118.1:n.-9-81A>C
NM_001378373.1:c.-9-81A>C MANE Select NP_001365302.1:n.-9-81A>C
NM_001378374.1:c.-24-66A>C NP_001365303.1:n.-24-66A>C