Canonical Allele Identifier: CA2609210209

Gene: MBL2

Linked Data

• gnomAD v4: 10-52771559-T-TCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771560_52771563dup , CM000672.2:g.52771560_52771563dup	GRCh38
NC_000010.10:g.54531320_54531323dup , CM000672.1:g.54531320_54531323dup	GRCh37
NC_000010.9:g.54201326_54201329dup	NCBI36
NG_008196.1:g.5138_5141dup , LRG_154:g.5138_5141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.73_76dup MANE Select	ENSP00000502789.1:p.Glu26ValfsTer2
ENST00000675947.1:c.73_76dup	ENSP00000502615.1:p.Glu26ValfsTer2
ENST00000373968.3:c.73_76dup	ENSP00000363079.3:p.Glu26ValfsTer2
NM_000242.2:c.73_76dup , LRG_154t1:c.73_76dup	NP_000233.1:p.Glu26ValfsTer2
XM_006717861.2:c.73_76dup	XP_006717924.1:p.Glu26ValfsTer2
XM_011539816.1:c.73_76dup	XP_011538118.1:p.Glu26ValfsTer2
XM_006717861.4:c.73_76dup	XP_006717924.1:p.Glu26ValfsTer2
XM_011539816.3:c.73_76dup	XP_011538118.1:p.Glu26ValfsTer2
NM_000242.3:c.73_76dup	NP_000233.1:p.Glu26ValfsTer2
NM_001378373.1:c.73_76dup MANE Select	NP_001365302.1:p.Glu26ValfsTer2
NM_001378374.1:c.73_76dup	NP_001365303.1:p.Glu26ValfsTer2