Canonical Allele Identifier: CA2527131312
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771491_52771492insACCCGGTTCGCCCTGCGG , CM000672.2:g.52771491_52771492insACCCGGTTCGCCCTGCGG GRCh38
NC_000010.10:g.54531251_54531252insACCCGGTTCGCCCTGCGG , CM000672.1:g.54531251_54531252insACCCGGTTCGCCCTGCGG GRCh37
NC_000010.9:g.54201257_54201258insACCCGGTTCGCCCTGCGG NCBI36
NG_008196.1:g.5209_5210insCCGCAGGGCGAACCGGGT , LRG_154:g.5209_5210insCCGCAGGGCGAACCGGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.144_145insCCGCAGGGCGAACCGGGT MANE Select ENSP00000502789.1:p.Gly48_Lys49insProGlnG...
ENST00000675947.1:c.144_145insCCGCAGGGCGAACCGGGT ENSP00000502615.1:p.Gly48_Lys49insProGlnG...
ENST00000373968.3:c.144_145insCCGCAGGGCGAACCGGGT ENSP00000363079.3:p.Gly48_Lys49insProGlnG...
NM_000242.2:c.144_145insCCGCAGGGCGAACCGGGT , LRG_154t1:c.144_145insCCGCAGGGCGAACCGGGT NP_000233.1:p.Gly48_Lys49insProGlnGlyGluP...
XM_006717861.2:c.144_145insCCGCAGGGCGAACCGGGT XP_006717924.1:p.Gly48_Lys49insProGlnGlyG...
XM_011539816.1:c.144_145insCCGCAGGGCGAACCGGGT XP_011538118.1:p.Gly48_Lys49insProGlnGlyG...
XM_006717861.4:c.144_145insCCGCAGGGCGAACCGGGT XP_006717924.1:p.Gly48_Lys49insProGlnGlyG...
XM_011539816.3:c.144_145insCCGCAGGGCGAACCGGGT XP_011538118.1:p.Gly48_Lys49insProGlnGlyG...
NM_000242.3:c.144_145insCCGCAGGGCGAACCGGGT NP_000233.1:p.Gly48_Lys49insProGlnGlyGluP...
NM_001378373.1:c.144_145insCCGCAGGGCGAACCGGGT MANE Select NP_001365302.1:p.Gly48_Lys49insProGlnGlyG...
NM_001378374.1:c.144_145insCCGCAGGGCGAACCGGGT NP_001365303.1:p.Gly48_Lys49insProGlnGlyG...