Canonical Allele Identifier: CA1910258790
Community Standard Title: NM_001378373.1(MBL2):c.304+363T=
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52770307A= , CM000672.2:g.52770307A= GRCh38
NC_000010.10:g.54530067A= , CM000672.1:g.54530067A= GRCh37
NC_000010.9:g.54200073A= NCBI36
NG_008196.1:g.6394T= , LRG_154:g.6394T=

Transcript Alleles

HGVS Amino-acid Change
NM_001378373.1:c.304+363T= MANE Select NP_001365302.1:n.304+363T=
ENST00000674931.1:c.304+363T= MANE Select ENSP00000502789.1:n.304+363T=
NM_000242.2:c.304+363T= , LRG_154t1:c.304+363T= NP_000233.1:n.304+363T=
NM_000242.3:c.304+363T= NP_000233.1:n.304+363T=
NM_001378374.1:c.304+363T= NP_001365303.1:n.304+363T=
ENST00000373968.3:c.304+363T= ENSP00000363079.3:n.304+363T=
ENST00000675947.1:c.304+363T= ENSP00000502615.1:n.304+363T=
XM_006717861.2:c.304+363T= XP_006717924.1:n.304+363T=
XM_006717861.4:c.304+363T= XP_006717924.1:n.304+363T=
XM_011539816.1:c.304+363T= XP_011538118.1:n.304+363T=
XM_011539816.3:c.304+363T= XP_011538118.1:n.304+363T=