Canonical Allele Identifier: CA5504449

Gene: MBL2

Linked Data

• dbSNP Id: rs763127694
• ExAC: 10:54531363 GAGA / G
• gnomAD v2: 10-54531363-GAGA-G
• gnomAD v3: 10-52771603-GAGA-G
• gnomAD v4: 10-52771603-GAGA-G
• COSMIC: COSM1731566
• MyVariant Identifiers: chr10:g.54531364_54531366del (hg19) ; chr10:g.52771605_52771607del (hg38) ; chr10:g.52771604_52771606del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771606_52771608del , CM000672.2:g.52771606_52771608del	GRCh38
NC_000010.10:g.54531366_54531368del , CM000672.1:g.54531366_54531368del	GRCh37
NC_000010.9:g.54201372_54201374del	NCBI36
NG_008196.1:g.5095_5097del , LRG_154:g.5095_5097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.30_32del MANE Select	ENSP00000502789.1:p.Leu11del
ENST00000675947.1:c.30_32del	ENSP00000502615.1:p.Leu11del
ENST00000373968.3:c.30_32del	ENSP00000363079.3:p.Leu11del
NM_000242.2:c.30_32del , LRG_154t1:c.30_32del	NP_000233.1:p.Leu11del
XM_006717861.2:c.30_32del	XP_006717924.1:p.Leu11del
XM_011539816.1:c.30_32del	XP_011538118.1:p.Leu11del
XM_006717861.4:c.30_32del	XP_006717924.1:p.Leu11del
XM_011539816.3:c.30_32del	XP_011538118.1:p.Leu11del
NM_000242.3:c.30_32del	NP_000233.1:p.Leu11del
NM_001378373.1:c.30_32del MANE Select	NP_001365302.1:p.Leu11del
NM_001378374.1:c.30_32del	NP_001365303.1:p.Leu11del