Canonical Allele Identifier: CA666361279
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs1225804279

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772264C>T , CM000672.2:g.52772264C>T GRCh38
NC_000010.10:g.54532024C>T , CM000672.1:g.54532024C>T GRCh37
NC_000010.9:g.54202030C>T NCBI36
NG_008196.1:g.4437G>A , LRG_154:g.4437G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-10+473G>A MANE Select ENSP00000502789.1:n.-10+473G>A
ENST00000675947.1:c.-25+473G>A ENSP00000502615.1:n.-25+473G>A
XM_006717861.2:c.-25+473G>A XP_006717924.1:n.-25+473G>A
XM_011539816.1:c.-10+473G>A XP_011538118.1:n.-10+473G>A
XM_006717861.4:c.-25+473G>A XP_006717924.1:n.-25+473G>A
XM_011539816.3:c.-10+473G>A XP_011538118.1:n.-10+473G>A
NM_001378373.1:c.-10+473G>A MANE Select NP_001365302.1:n.-10+473G>A
NM_001378374.1:c.-25+473G>A NP_001365303.1:n.-25+473G>A