Canonical Allele Identifier: CA10635905
Gene: MBL2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 300124
ClinVar RCV Id: RCV000277266
dbSNP Id: rs10824792

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52766446C>T , CM000672.2:g.52766446C>T GRCh38
NC_000010.10:g.54526206C>T , CM000672.1:g.54526206C>T GRCh37
NC_000010.9:g.54196212C>T NCBI36
NG_008196.1:g.10255G>A , LRG_154:g.10255G>A

Transcript Alleles

HGVS Amino-acid change
NM_000242.2:c.*1691G>A , LRG_154t1:c.*1691G>A NP_000233.1:p.=
XM_006717861.2:c.*1691G>A XP_006717924.1:p.=
XM_011539816.1:c.*1691G>A XP_011538118.1:p.=
XM_006717861.4:c.*1691G>A XP_006717924.1:p.=
XM_011539816.3:c.*1691G>A XP_011538118.1:p.=
ENST00000373968.3:c.*1691G>A ENSP00000363079.3:p.=