Canonical Allele Identifier: CA593572773
Gene: MBL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771385A>G , CM000672.2:g.52771385A>G GRCh38
NC_000010.10:g.54531145A>G , CM000672.1:g.54531145A>G GRCh37
NC_000010.9:g.54201151A>G NCBI36
NG_008196.1:g.5316T>C , LRG_154:g.5316T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.187+64T>C MANE Select ENSP00000502789.1:n.187+64T>C
ENST00000675947.1:c.187+64T>C ENSP00000502615.1:n.187+64T>C
ENST00000373968.3:c.187+64T>C ENSP00000363079.3:n.187+64T>C
NM_000242.2:c.187+64T>C , LRG_154t1:c.187+64T>C NP_000233.1:n.187+64T>C
XM_006717861.2:c.187+64T>C XP_006717924.1:n.187+64T>C
XM_011539816.1:c.187+64T>C XP_011538118.1:n.187+64T>C
XM_006717861.4:c.187+64T>C XP_006717924.1:n.187+64T>C
XM_011539816.3:c.187+64T>C XP_011538118.1:n.187+64T>C
NM_000242.3:c.187+64T>C NP_000233.1:n.187+64T>C
NM_001378373.1:c.187+64T>C MANE Select NP_001365302.1:n.187+64T>C
NM_001378374.1:c.187+64T>C NP_001365303.1:n.187+64T>C