Canonical Allele Identifier: CA1910259321
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771482_52771483delinsGC , CM000672.2:g.52771482_52771483delinsGC GRCh38
NC_000010.10:g.54531242_54531243delinsGC , CM000672.1:g.54531242_54531243delinsGC GRCh37
NC_000010.9:g.54201248_54201249delinsGC NCBI36
NG_008196.1:g.5218_5219delinsGC , LRG_154:g.5218_5219delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.153_154delinsGC MANE Select ENSP00000502789.1:p.Gly51=
ENST00000675947.1:c.153_154delinsGC ENSP00000502615.1:p.Gly51=
ENST00000373968.3:c.153_154delinsGC ENSP00000363079.3:p.Gly51=
NM_000242.2:c.153_154delinsGC , LRG_154t1:c.153_154delinsGC NP_000233.1:p.Gly51=
XM_006717861.2:c.153_154delinsGC XP_006717924.1:p.Gly51=
XM_011539816.1:c.153_154delinsGC XP_011538118.1:p.Gly51=
XM_006717861.4:c.153_154delinsGC XP_006717924.1:p.Gly51=
XM_011539816.3:c.153_154delinsGC XP_011538118.1:p.Gly51=
NM_000242.3:c.153_154delinsGC NP_000233.1:p.Gly51=
NM_001378373.1:c.153_154delinsGC MANE Select NP_001365302.1:p.Gly51=
NM_001378374.1:c.153_154delinsGC NP_001365303.1:p.Gly51=