Canonical Allele Identifier: CA2609210246

Gene: MBL2

Linked Data

• gnomAD v4: 10-52771720-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771722dup , CM000672.2:g.52771722dup	GRCh38
NC_000010.10:g.54531482dup , CM000672.1:g.54531482dup	GRCh37
NC_000010.9:g.54201488dup	NCBI36
NG_008196.1:g.4980dup , LRG_154:g.4980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-77dup MANE Select	ENSP00000502789.1:n.-9-77dup
ENST00000675947.1:c.-24-62dup	ENSP00000502615.1:n.-24-62dup
XM_006717861.2:c.-24-62dup	XP_006717924.1:n.-24-62dup
XM_011539816.1:c.-9-77dup	XP_011538118.1:n.-9-77dup
XM_006717861.4:c.-24-62dup	XP_006717924.1:n.-24-62dup
XM_011539816.3:c.-9-77dup	XP_011538118.1:n.-9-77dup
NM_001378373.1:c.-9-77dup MANE Select	NP_001365302.1:n.-9-77dup
NM_001378374.1:c.-24-62dup	NP_001365303.1:n.-24-62dup