Canonical Allele Identifier: CA10631781
Gene: MBL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 300113
ClinVar RCV Id: RCV000290537
dbSNP Id: rs2099902

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52766089T>C , CM000672.2:g.52766089T>C GRCh38
NC_000010.10:g.54525849T>C , CM000672.1:g.54525849T>C GRCh37
NC_000010.9:g.54195855T>C NCBI36
NG_008196.1:g.10612A>G , LRG_154:g.10612A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.*2048A>G MANE Select ENSP00000502789.1:n.*2048A>G
ENST00000675947.1:c.*2048A>G ENSP00000502615.1:n.*2048A>G
ENST00000373968.3:c.*2048A>G ENSP00000363079.3:n.*2048A>G
NM_000242.2:c.*2048A>G , LRG_154t1:c.*2048A>G NP_000233.1:n.*2048A>G
XM_006717861.2:c.*2048A>G XP_006717924.1:n.*2048A>G
XM_011539816.1:c.*2048A>G XP_011538118.1:n.*2048A>G
XM_006717861.4:c.*2048A>G XP_006717924.1:n.*2048A>G
XM_011539816.3:c.*2048A>G XP_011538118.1:n.*2048A>G
NM_000242.3:c.*2048A>G NP_000233.1:n.*2048A>G
NM_001378373.1:c.*2048A>G MANE Select NP_001365302.1:n.*2048A>G
NM_001378374.1:c.*2048A>G NP_001365303.1:n.*2048A>G