Canonical Allele Identifier: CA918675926

Gene: MBL2

Linked Data

• dbSNP Id: rs570969534
• gnomAD v3: 10-52766370-G-GAC
• gnomAD v4: 10-52766370-G-GAC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52766380_52766381dup , CM000672.2:g.52766380_52766381dup	GRCh38
NC_000010.10:g.54526140_54526141dup , CM000672.1:g.54526140_54526141dup	GRCh37
NC_000010.9:g.54196146_54196147dup	NCBI36
NG_008196.1:g.10329_10330dup , LRG_154:g.10329_10330dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.*1765_*1766dup MANE Select	ENSP00000502789.1:n.*1765_*1766dup
ENST00000675947.1:c.*1765_*1766dup	ENSP00000502615.1:n.*1765_*1766dup
ENST00000373968.3:c.*1765_*1766dup	ENSP00000363079.3:n.*1765_*1766dup
NM_000242.2:c.*1765_*1766dup , LRG_154t1:c.*1765_*1766dup	NP_000233.1:n.*1765_*1766dup
XM_006717861.2:c.*1765_*1766dup	XP_006717924.1:n.*1765_*1766dup
XM_011539816.1:c.*1765_*1766dup	XP_011538118.1:n.*1765_*1766dup
XM_006717861.4:c.*1765_*1766dup	XP_006717924.1:n.*1765_*1766dup
XM_011539816.3:c.*1765_*1766dup	XP_011538118.1:n.*1765_*1766dup
NM_000242.3:c.*1765_*1766dup	NP_000233.1:n.*1765_*1766dup
NM_001378373.1:c.*1765_*1766dup MANE Select	NP_001365302.1:n.*1765_*1766dup
NM_001378374.1:c.*1765_*1766dup	NP_001365303.1:n.*1765_*1766dup