Canonical Allele Identifier: CA593571533

Gene: MBL2

Linked Data

• dbSNP Id: rs1262009865
• gnomAD v2: 10-54525742-GAAAA-G
• gnomAD v3: 10-52765982-GAAAA-G
• gnomAD v4: 10-52765982-GAAAA-G
• MyVariant Identifiers: chr10:g.54525743_54525746del (hg19) ; chr10:g.52765983_52765986del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52765985_52765988del , CM000672.2:g.52765985_52765988del	GRCh38
NC_000010.10:g.54525745_54525748del , CM000672.1:g.54525745_54525748del	GRCh37
NC_000010.9:g.54195751_54195754del	NCBI36
NG_008196.1:g.10715_10718del , LRG_154:g.10715_10718del

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.*2151_*2154del MANE Select	ENSP00000502789.1:n.*2151_*2154del
ENST00000675947.1:c.*2151_*2154del	ENSP00000502615.1:n.*2151_*2154del
ENST00000373968.3:c.*2151_*2154del	ENSP00000363079.3:n.*2151_*2154del
NM_000242.2:c.*2151_*2154del , LRG_154t1:c.*2151_*2154del	NP_000233.1:n.*2151_*2154del
XM_006717861.2:c.*2151_*2154del	XP_006717924.1:n.*2151_*2154del
XM_011539816.1:c.*2151_*2154del	XP_011538118.1:n.*2151_*2154del
XM_006717861.4:c.*2151_*2154del	XP_006717924.1:n.*2151_*2154del
XM_011539816.3:c.*2151_*2154del	XP_011538118.1:n.*2151_*2154del
NM_000242.3:c.*2151_*2154del	NP_000233.1:n.*2151_*2154del
NM_001378373.1:c.*2151_*2154del MANE Select	NP_001365302.1:n.*2151_*2154del
NM_001378374.1:c.*2151_*2154del	NP_001365303.1:n.*2151_*2154del