Canonical Allele Identifier: CA5504428
Gene: MBL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 878256
ClinVar RCV Id: RCV001104674
dbSNP Id: rs1342494768

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771503C>T , CM000672.2:g.52771503C>T GRCh38
NC_000010.10:g.54531263C>T , CM000672.1:g.54531263C>T GRCh37
NC_000010.9:g.54201269C>T NCBI36
NG_008196.1:g.5198G>A , LRG_154:g.5198G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.133G>A MANE Select ENSP00000502789.1:p.Gly45Ser
ENST00000675947.1:c.133G>A ENSP00000502615.1:p.Gly45Ser
ENST00000373968.3:c.133G>A ENSP00000363079.3:p.Gly45Ser
NM_000242.2:c.133G>A , LRG_154t1:c.133G>A NP_000233.1:p.Gly45Ser
XM_006717861.2:c.133G>A XP_006717924.1:p.Gly45Ser
XM_011539816.1:c.133G>A XP_011538118.1:p.Gly45Ser
XM_006717861.4:c.133G>A XP_006717924.1:p.Gly45Ser
XM_011539816.3:c.133G>A XP_011538118.1:p.Gly45Ser
NM_000242.3:c.133G>A NP_000233.1:p.Gly45Ser
NM_001378373.1:c.133G>A MANE Select NP_001365302.1:p.Gly45Ser
NM_001378374.1:c.133G>A NP_001365303.1:p.Gly45Ser