Canonical Allele Identifier: CA1910259451
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771732A= , CM000672.2:g.52771732A= GRCh38
NC_000010.10:g.54531492A= , CM000672.1:g.54531492A= GRCh37
NC_000010.9:g.54201498A= NCBI36
NG_008196.1:g.4969T= , LRG_154:g.4969T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-88T= MANE Select ENSP00000502789.1:n.-9-88T=
ENST00000675947.1:c.-24-73T= ENSP00000502615.1:n.-24-73T=
XM_006717861.2:c.-24-73T= XP_006717924.1:n.-24-73T=
XM_011539816.1:c.-9-88T= XP_011538118.1:n.-9-88T=
XM_006717861.4:c.-24-73T= XP_006717924.1:n.-24-73T=
XM_011539816.3:c.-9-88T= XP_011538118.1:n.-9-88T=
NM_001378373.1:c.-9-88T= MANE Select NP_001365302.1:n.-9-88T=
NM_001378374.1:c.-24-73T= NP_001365303.1:n.-24-73T=