Canonical Allele Identifier: CA2551880818

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771502_52771503insTCACCACGTTCGCCACGCGGGCCAGGTTCACCACGCGGGCCAGGTGCTCCGGGCACTCCGTTTACACTGAATTCCTGCACGATTTTACGGACC , CM000672.2:g.52771502_52771503insTCACCACGTTCGCCACGCGGGCCAGGTTCACCACGCGGGCCAGGTGCTCCGGGCACTCCGTTTACACTGAATTCCTGCACGATTTTACGGACC	GRCh38
NC_000010.10:g.54531262_54531263insTCACCACGTTCGCCACGCGGGCCAGGTTCACCACGCGGGCCAGGTGCTCCGGGCACTCCGTTTACACTGAATTCCTGCACGATTTTACGGACC , CM000672.1:g.54531262_54531263insTCACCACGTTCGCCACGCGGGCCAGGTTCACCACGCGGGCCAGGTGCTCCGGGCACTCCGTTTACACTGAATTCCTGCACGATTTTACGGACC	GRCh37
NC_000010.9:g.54201268_54201269insTCACCACGTTCGCCACGCGGGCCAGGTTCACCACGCGGGCCAGGTGCTCCGGGCACTCCGTTTACACTGAATTCCTGCACGATTTTACGGACC	NCBI36
NG_008196.1:g.5199_5200insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG , LRG_154:g.5199_5200insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG MANE Select	ENSP00000502789.1:p.Gly46SerfsTer10
ENST00000675947.1:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	ENSP00000502615.1:p.Gly46SerfsTer10
ENST00000373968.3:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	ENSP00000363079.3:p.Gly46SerfsTer10
NM_000242.2:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG , LRG_154t1:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	NP_000233.1:p.Gly46SerfsTer10
XM_006717861.2:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	XP_006717924.1:p.Gly46SerfsTer10
XM_011539816.1:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	XP_011538118.1:p.Gly46SerfsTer10
XM_006717861.4:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	XP_006717924.1:p.Gly46SerfsTer10
XM_011539816.3:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	XP_011538118.1:p.Gly46SerfsTer10
NM_000242.3:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	NP_000233.1:p.Gly46SerfsTer10
NM_001378373.1:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG MANE Select	NP_001365302.1:p.Gly46SerfsTer10
NM_001378374.1:c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG	NP_001365303.1:p.Gly46SerfsTer10