Canonical Allele Identifier: CA376540045
Gene: MBL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771493C>T , CM000672.2:g.52771493C>T GRCh38
NC_000010.10:g.54531253C>T , CM000672.1:g.54531253C>T GRCh37
NC_000010.9:g.54201259C>T NCBI36
NG_008196.1:g.5208G>A , LRG_154:g.5208G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.143G>A MANE Select ENSP00000502789.1:p.Gly48Asp
ENST00000675947.1:c.143G>A ENSP00000502615.1:p.Gly48Asp
ENST00000373968.3:c.143G>A ENSP00000363079.3:p.Gly48Asp
NM_000242.2:c.143G>A , LRG_154t1:c.143G>A NP_000233.1:p.Gly48Asp
XM_006717861.2:c.143G>A XP_006717924.1:p.Gly48Asp
XM_011539816.1:c.143G>A XP_011538118.1:p.Gly48Asp
XM_006717861.4:c.143G>A XP_006717924.1:p.Gly48Asp
XM_011539816.3:c.143G>A XP_011538118.1:p.Gly48Asp
NM_000242.3:c.143G>A NP_000233.1:p.Gly48Asp
NM_001378373.1:c.143G>A MANE Select NP_001365302.1:p.Gly48Asp
NM_001378374.1:c.143G>A NP_001365303.1:p.Gly48Asp