Canonical Allele Identifier: CA2580937349
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771730G>A , CM000672.2:g.52771730G>A GRCh38
NC_000010.10:g.54531490G>A , CM000672.1:g.54531490G>A GRCh37
NC_000010.9:g.54201496G>A NCBI36
NG_008196.1:g.4971C>T , LRG_154:g.4971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-86C>T MANE Select ENSP00000502789.1:n.-9-86C>T
ENST00000675947.1:c.-24-71C>T ENSP00000502615.1:n.-24-71C>T
XM_006717861.2:c.-24-71C>T XP_006717924.1:n.-24-71C>T
XM_011539816.1:c.-9-86C>T XP_011538118.1:n.-9-86C>T
XM_006717861.4:c.-24-71C>T XP_006717924.1:n.-24-71C>T
XM_011539816.3:c.-9-86C>T XP_011538118.1:n.-9-86C>T
NM_001378373.1:c.-9-86C>T MANE Select NP_001365302.1:n.-9-86C>T
NM_001378374.1:c.-24-71C>T NP_001365303.1:n.-24-71C>T