Canonical Allele Identifier: CA2961058139

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771483_52771485dup , CM000672.2:g.52771483_52771485dup	GRCh38
NC_000010.10:g.54531243_54531245dup , CM000672.1:g.54531243_54531245dup	GRCh37
NC_000010.9:g.54201249_54201251dup	NCBI36
NG_008196.1:g.5216_5218dup , LRG_154:g.5216_5218dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.151_153dup MANE Select	ENSP00000502789.1:p.Gly51_Arg52insGly
ENST00000675947.1:c.151_153dup	ENSP00000502615.1:p.Gly51_Arg52insGly
ENST00000373968.3:c.151_153dup	ENSP00000363079.3:p.Gly51_Arg52insGly
NM_000242.2:c.151_153dup , LRG_154t1:c.151_153dup	NP_000233.1:p.Gly51_Arg52insGly
XM_006717861.2:c.151_153dup	XP_006717924.1:p.Gly51_Arg52insGly
XM_011539816.1:c.151_153dup	XP_011538118.1:p.Gly51_Arg52insGly
XM_006717861.4:c.151_153dup	XP_006717924.1:p.Gly51_Arg52insGly
XM_011539816.3:c.151_153dup	XP_011538118.1:p.Gly51_Arg52insGly
NM_000242.3:c.151_153dup	NP_000233.1:p.Gly51_Arg52insGly
NM_001378373.1:c.151_153dup MANE Select	NP_001365302.1:p.Gly51_Arg52insGly
NM_001378374.1:c.151_153dup	NP_001365303.1:p.Gly51_Arg52insGly