Canonical Allele Identifier: CA376540057

Gene: MBL2

Linked Data

• MyVariant Identifiers: chr10:g.54531259A>C (hg19) ; chr10:g.52771499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771499A>C , CM000672.2:g.52771499A>C	GRCh38
NC_000010.10:g.54531259A>C , CM000672.1:g.54531259A>C	GRCh37
NC_000010.9:g.54201265A>C	NCBI36
NG_008196.1:g.5202T>G , LRG_154:g.5202T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.137T>G MANE Select	ENSP00000502789.1:p.Phe46Cys
ENST00000675947.1:c.137T>G	ENSP00000502615.1:p.Phe46Cys
ENST00000373968.3:c.137T>G	ENSP00000363079.3:p.Phe46Cys
NM_000242.2:c.137T>G , LRG_154t1:c.137T>G	NP_000233.1:p.Phe46Cys
XM_006717861.2:c.137T>G	XP_006717924.1:p.Phe46Cys
XM_011539816.1:c.137T>G	XP_011538118.1:p.Phe46Cys
XM_006717861.4:c.137T>G	XP_006717924.1:p.Phe46Cys
XM_011539816.3:c.137T>G	XP_011538118.1:p.Phe46Cys
NM_000242.3:c.137T>G	NP_000233.1:p.Phe46Cys
NM_001378373.1:c.137T>G MANE Select	NP_001365302.1:p.Phe46Cys
NM_001378374.1:c.137T>G	NP_001365303.1:p.Phe46Cys