Canonical Allele Identifier: CA10631786
Gene: MBL2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 300118
ClinVar RCV Id: RCV000404555
dbSNP Id: rs2120131

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52766258T>G , CM000672.2:g.52766258T>G GRCh38
NC_000010.10:g.54526018T>G , CM000672.1:g.54526018T>G GRCh37
NC_000010.9:g.54196024T>G NCBI36
NG_008196.1:g.10443A>C , LRG_154:g.10443A>C

Transcript Alleles

HGVS Amino-acid change
NM_000242.2:c.*1879A>C , LRG_154t1:c.*1879A>C NP_000233.1:p.=
XM_006717861.2:c.*1879A>C XP_006717924.1:p.=
XM_011539816.1:c.*1879A>C XP_011538118.1:p.=
XM_006717861.4:c.*1879A>C XP_006717924.1:p.=
XM_011539816.3:c.*1879A>C XP_011538118.1:p.=
ENST00000373968.3:c.*1879A>C ENSP00000363079.3:p.=