Canonical Allele Identifier: CA1910259433
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771692A= , CM000672.2:g.52771692A= GRCh38
NC_000010.10:g.54531452A= , CM000672.1:g.54531452A= GRCh37
NC_000010.9:g.54201458A= NCBI36
NG_008196.1:g.5009T= , LRG_154:g.5009T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-48T= MANE Select ENSP00000502789.1:n.-9-48T=
ENST00000675947.1:c.-24-33T= ENSP00000502615.1:n.-24-33T=
ENST00000373968.3:c.-57T= ENSP00000363079.3:n.-57T=
NM_000242.2:c.-57T= , LRG_154t1:c.-57T= NP_000233.1:n.-57T=
XM_006717861.2:c.-24-33T= XP_006717924.1:n.-24-33T=
XM_011539816.1:c.-9-48T= XP_011538118.1:n.-9-48T=
XM_006717861.4:c.-24-33T= XP_006717924.1:n.-24-33T=
XM_011539816.3:c.-9-48T= XP_011538118.1:n.-9-48T=
NM_001378373.1:c.-9-48T= MANE Select NP_001365302.1:n.-9-48T=
NM_001378374.1:c.-24-33T= NP_001365303.1:n.-24-33T=