Canonical Allele Identifier: CA918675976

Gene: MBL2

Linked Data

• dbSNP Id: rs1564436697
• gnomAD v4: 10-52771577-G-GAGTAAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771578_52771585dup , CM000672.2:g.52771578_52771585dup	GRCh38
NC_000010.10:g.54531338_54531345dup , CM000672.1:g.54531338_54531345dup	GRCh37
NC_000010.9:g.54201344_54201351dup	NCBI36
NG_008196.1:g.5116_5123dup , LRG_154:g.5116_5123dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.51_58dup MANE Select	ENSP00000502789.1:p.Ser20CysfsTer7
ENST00000675947.1:c.51_58dup	ENSP00000502615.1:p.Ser20CysfsTer7
ENST00000373968.3:c.51_58dup	ENSP00000363079.3:p.Ser20CysfsTer7
NM_000242.2:c.51_58dup , LRG_154t1:c.51_58dup	NP_000233.1:p.Ser20CysfsTer7
XM_006717861.2:c.51_58dup	XP_006717924.1:p.Ser20CysfsTer7
XM_011539816.1:c.51_58dup	XP_011538118.1:p.Ser20CysfsTer7
XM_006717861.4:c.51_58dup	XP_006717924.1:p.Ser20CysfsTer7
XM_011539816.3:c.51_58dup	XP_011538118.1:p.Ser20CysfsTer7
NM_000242.3:c.51_58dup	NP_000233.1:p.Ser20CysfsTer7
NM_001378373.1:c.51_58dup MANE Select	NP_001365302.1:p.Ser20CysfsTer7
NM_001378374.1:c.51_58dup	NP_001365303.1:p.Ser20CysfsTer7