Canonical Allele Identifier: CA5504434

Gene: MBL2

Linked Data

• dbSNP Id: rs146004726
• ExAC: 10:54531280 C / T
• gnomAD v2: 10-54531280-C-T
• gnomAD v3: 10-52771520-C-T
• gnomAD v4: 10-52771520-C-T
• MyVariant Identifiers: chr10:g.54531280C>T (hg19) ; chr10:g.52771520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771520C>T , CM000672.2:g.52771520C>T	GRCh38
NC_000010.10:g.54531280C>T , CM000672.1:g.54531280C>T	GRCh37
NC_000010.9:g.54201286C>T	NCBI36
NG_008196.1:g.5181G>A , LRG_154:g.5181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.116G>A MANE Select	ENSP00000502789.1:p.Ser39Asn
ENST00000675947.1:c.116G>A	ENSP00000502615.1:p.Ser39Asn
ENST00000373968.3:c.116G>A	ENSP00000363079.3:p.Ser39Asn
NM_000242.2:c.116G>A , LRG_154t1:c.116G>A	NP_000233.1:p.Ser39Asn
XM_006717861.2:c.116G>A	XP_006717924.1:p.Ser39Asn
XM_011539816.1:c.116G>A	XP_011538118.1:p.Ser39Asn
XM_006717861.4:c.116G>A	XP_006717924.1:p.Ser39Asn
XM_011539816.3:c.116G>A	XP_011538118.1:p.Ser39Asn
NM_000242.3:c.116G>A	NP_000233.1:p.Ser39Asn
NM_001378373.1:c.116G>A MANE Select	NP_001365302.1:p.Ser39Asn
NM_001378374.1:c.116G>A	NP_001365303.1:p.Ser39Asn