Canonical Allele Identifier: CA1910259756
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772348T= , CM000672.2:g.52772348T= GRCh38
NC_000010.10:g.54532108T= , CM000672.1:g.54532108T= GRCh37
NC_000010.9:g.54202114T= NCBI36
NG_008196.1:g.4353A= , LRG_154:g.4353A=

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-10+389A= MANE Select ENSP00000502789.1:n.-10+389A=
ENST00000675947.1:c.-25+389A= ENSP00000502615.1:n.-25+389A=
XM_006717861.2:c.-25+389A= XP_006717924.1:n.-25+389A=
XM_011539816.1:c.-10+389A= XP_011538118.1:n.-10+389A=
XM_006717861.4:c.-25+389A= XP_006717924.1:n.-25+389A=
XM_011539816.3:c.-10+389A= XP_011538118.1:n.-10+389A=
NM_001378373.1:c.-10+389A= MANE Select NP_001365302.1:n.-10+389A=
NM_001378374.1:c.-25+389A= NP_001365303.1:n.-25+389A=