Canonical Allele Identifier: CA2609210301
Gene: MBL2 HGNC NCBI

Linked Data

gnomAD v4: 10-52771796-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771796C>A , CM000672.2:g.52771796C>A GRCh38
NC_000010.10:g.54531556C>A , CM000672.1:g.54531556C>A GRCh37
NC_000010.9:g.54201562C>A NCBI36
NG_008196.1:g.4905G>T , LRG_154:g.4905G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-9-152G>T MANE Select ENSP00000502789.1:n.-9-152G>T
ENST00000675947.1:c.-24-137G>T ENSP00000502615.1:n.-24-137G>T
XM_006717861.2:c.-24-137G>T XP_006717924.1:n.-24-137G>T
XM_011539816.1:c.-9-152G>T XP_011538118.1:n.-9-152G>T
XM_006717861.4:c.-24-137G>T XP_006717924.1:n.-24-137G>T
XM_011539816.3:c.-9-152G>T XP_011538118.1:n.-9-152G>T
NM_001378373.1:c.-9-152G>T MANE Select NP_001365302.1:n.-9-152G>T
NM_001378374.1:c.-24-137G>T NP_001365303.1:n.-24-137G>T
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