Canonical Allele Identifier: CA123885
Gene: MBL2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.52771482G>A
GRCh37 chr10:g.54531242G>A
Revel Score:
ENST00000373968 0.527
gnomAD v2:
10:54531242 G / A
gnomAD v3:
10:52771482 G / A
gnomAD v4:
chr10-52771482-G-A
Joint Max Group AF 0.0712939 (NFE)
Genomes Max Group AF 0.07054213 (NFE)
Exomes Max Group AF 0.07124902 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771482G>A , CM000672.2:g.52771482G>A GRCh38
NC_000010.10:g.54531242G>A , CM000672.1:g.54531242G>A GRCh37
NC_000010.9:g.54201248G>A NCBI36
NG_008196.1:g.5219C>T , LRG_154:g.5219C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.154C>T MANE Select ENSP00000502789.1:p.Arg52Cys
ENST00000675947.1:c.154C>T ENSP00000502615.1:p.Arg52Cys
ENST00000373968.3:c.154C>T ENSP00000363079.3:p.Arg52Cys
NM_000242.2:c.154C>T , LRG_154t1:c.154C>T NP_000233.1:p.Arg52Cys
XM_006717861.2:c.154C>T XP_006717924.1:p.Arg52Cys
XM_011539816.1:c.154C>T XP_011538118.1:p.Arg52Cys
XM_006717861.4:c.154C>T XP_006717924.1:p.Arg52Cys
XM_011539816.3:c.154C>T XP_011538118.1:p.Arg52Cys
NM_000242.3:c.154C>T NP_000233.1:p.Arg52Cys
NM_001378373.1:c.154C>T MANE Select NP_001365302.1:p.Arg52Cys
NM_001378374.1:c.154C>T NP_001365303.1:p.Arg52Cys
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