Canonical Allele Identifier: CA376540052
Gene: MBL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771497G>A , CM000672.2:g.52771497G>A GRCh38
NC_000010.10:g.54531257G>A , CM000672.1:g.54531257G>A GRCh37
NC_000010.9:g.54201263G>A NCBI36
NG_008196.1:g.5204C>T , LRG_154:g.5204C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.139C>T MANE Select ENSP00000502789.1:p.Pro47Ser
ENST00000675947.1:c.139C>T ENSP00000502615.1:p.Pro47Ser
ENST00000373968.3:c.139C>T ENSP00000363079.3:p.Pro47Ser
NM_000242.2:c.139C>T , LRG_154t1:c.139C>T NP_000233.1:p.Pro47Ser
XM_006717861.2:c.139C>T XP_006717924.1:p.Pro47Ser
XM_011539816.1:c.139C>T XP_011538118.1:p.Pro47Ser
XM_006717861.4:c.139C>T XP_006717924.1:p.Pro47Ser
XM_011539816.3:c.139C>T XP_011538118.1:p.Pro47Ser
NM_000242.3:c.139C>T NP_000233.1:p.Pro47Ser
NM_001378373.1:c.139C>T MANE Select NP_001365302.1:p.Pro47Ser
NM_001378374.1:c.139C>T NP_001365303.1:p.Pro47Ser