Canonical Allele Identifier: CA1910259574
Gene: MBL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771989T= , CM000672.2:g.52771989T= GRCh38
NC_000010.10:g.54531749T= , CM000672.1:g.54531749T= GRCh37
NC_000010.9:g.54201755T= NCBI36
NG_008196.1:g.4712A= , LRG_154:g.4712A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-345A= MANE Select ENSP00000502789.1:n.-9-345A=
ENST00000675947.1:c.-24-330A= ENSP00000502615.1:n.-24-330A=
XM_006717861.2:c.-24-330A= XP_006717924.1:n.-24-330A=
XM_011539816.1:c.-9-345A= XP_011538118.1:n.-9-345A=
XM_006717861.4:c.-24-330A= XP_006717924.1:n.-24-330A=
XM_011539816.3:c.-9-345A= XP_011538118.1:n.-9-345A=
NM_001378373.1:c.-9-345A= MANE Select NP_001365302.1:n.-9-345A=
NM_001378374.1:c.-24-330A= NP_001365303.1:n.-24-330A=
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