Canonical Allele Identifier: CA918675979

Gene: MBL2

Linked Data

• dbSNP Id: rs1554793404

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771603del , CM000672.2:g.52771603del	GRCh38
NC_000010.10:g.54531363del , CM000672.1:g.54531363del	GRCh37
NC_000010.9:g.54201369del	NCBI36
NG_008196.1:g.5099del , LRG_154:g.5099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.34del MANE Select	ENSP00000502789.1:p.Leu12Ter
ENST00000675947.1:c.34del	ENSP00000502615.1:p.Leu12Ter
ENST00000373968.3:c.34del	ENSP00000363079.3:p.Leu12Ter
NM_000242.2:c.34del , LRG_154t1:c.34del	NP_000233.1:p.Leu12Ter
XM_006717861.2:c.34del	XP_006717924.1:p.Leu12Ter
XM_011539816.1:c.34del	XP_011538118.1:p.Leu12Ter
XM_006717861.4:c.34del	XP_006717924.1:p.Leu12Ter
XM_011539816.3:c.34del	XP_011538118.1:p.Leu12Ter
NM_000242.3:c.34del	NP_000233.1:p.Leu12Ter
NM_001378373.1:c.34del MANE Select	NP_001365302.1:p.Leu12Ter
NM_001378374.1:c.34del	NP_001365303.1:p.Leu12Ter