Canonical Allele Identifier: CA666360510

Gene: MBL2

Linked Data

• dbSNP Id: rs1273169400
• gnomAD v3: 10-52771492-GC-G
• gnomAD v4: 10-52771492-GC-G
• MyVariant Identifiers: chr10:g.54531253del (hg19) ; chr10:g.52771493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771494del , CM000672.2:g.52771494del	GRCh38
NC_000010.10:g.54531254del , CM000672.1:g.54531254del	GRCh37
NC_000010.9:g.54201260del	NCBI36
NG_008196.1:g.5208del , LRG_154:g.5208del

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.143del MANE Select	ENSP00000502789.1:p.Gly48AlafsTer?
ENST00000675947.1:c.143del	ENSP00000502615.1:p.Gly48AlafsTer?
ENST00000373968.3:c.143del	ENSP00000363079.3:p.Gly48AlafsTer?
NM_000242.2:c.143del , LRG_154t1:c.143del	NP_000233.1:p.Gly48AlafsTer?
XM_006717861.2:c.143del	XP_006717924.1:p.Gly48AlafsTer?
XM_011539816.1:c.143del	XP_011538118.1:p.Gly48AlafsTer?
XM_006717861.4:c.143del	XP_006717924.1:p.Gly48AlafsTer?
XM_011539816.3:c.143del	XP_011538118.1:p.Gly48AlafsTer?
NM_000242.3:c.143del	NP_000233.1:p.Gly48AlafsTer?
NM_001378373.1:c.143del MANE Select	NP_001365302.1:p.Gly48AlafsTer?
NM_001378374.1:c.143del	NP_001365303.1:p.Gly48AlafsTer?