Canonical Allele Identifier: CA2574549847

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771654_52771661del , CM000672.2:g.52771654_52771661del	GRCh38
NC_000010.10:g.54531414_54531421del , CM000672.1:g.54531414_54531421del	GRCh37
NC_000010.9:g.54201420_54201427del	NCBI36
NG_008196.1:g.5040_5047del , LRG_154:g.5040_5047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-17_-9-10del MANE Select	ENSP00000502789.1:n.-9-17_-9-10del
ENST00000675947.1:c.-24-2_-19del
ENST00000373968.3:c.-26_-19del	ENSP00000363079.3:n.-26_-19del
NM_000242.2:c.-26_-19del , LRG_154t1:c.-26_-19del	NP_000233.1:n.-26_-19del
XM_006717861.2:c.-24-2_-19del
XM_011539816.1:c.-9-17_-9-10del	XP_011538118.1:n.-9-17_-9-10del
XM_006717861.4:c.-24-2_-19del
XM_011539816.3:c.-9-17_-9-10del	XP_011538118.1:n.-9-17_-9-10del
NM_001378373.1:c.-9-17_-9-10del MANE Select	NP_001365302.1:n.-9-17_-9-10del
NM_001378374.1:c.-24-2_-19del