Canonical Allele Identifier: CA2788008349
Gene: MBL2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771889C>A , CM000672.2:g.52771889C>A GRCh38
NC_000010.10:g.54531649C>A , CM000672.1:g.54531649C>A GRCh37
NC_000010.9:g.54201655C>A NCBI36
NG_008196.1:g.4812G>T , LRG_154:g.4812G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-9-245G>T MANE Select ENSP00000502789.1:n.-9-245G>T
ENST00000675947.1:c.-24-230G>T ENSP00000502615.1:n.-24-230G>T
XM_006717861.2:c.-24-230G>T XP_006717924.1:n.-24-230G>T
XM_011539816.1:c.-9-245G>T XP_011538118.1:n.-9-245G>T
XM_006717861.4:c.-24-230G>T XP_006717924.1:n.-24-230G>T
XM_011539816.3:c.-9-245G>T XP_011538118.1:n.-9-245G>T
NM_001378373.1:c.-9-245G>T MANE Select NP_001365302.1:n.-9-245G>T
NM_001378374.1:c.-24-230G>T NP_001365303.1:n.-24-230G>T
Search 100 bp 5'
Search 100 bp 3'