Canonical Allele Identifier: CA376540031
Gene: MBL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.54531247T>G (hg19) chr10:g.52771487T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771487T>G , CM000672.2:g.52771487T>G GRCh38
NC_000010.10:g.54531247T>G , CM000672.1:g.54531247T>G GRCh37
NC_000010.9:g.54201253T>G NCBI36
NG_008196.1:g.5214A>C , LRG_154:g.5214A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.149A>C MANE Select ENSP00000502789.1:p.Asp50Ala
ENST00000675947.1:c.149A>C ENSP00000502615.1:p.Asp50Ala
ENST00000373968.3:c.149A>C ENSP00000363079.3:p.Asp50Ala
NM_000242.2:c.149A>C , LRG_154t1:c.149A>C NP_000233.1:p.Asp50Ala
XM_006717861.2:c.149A>C XP_006717924.1:p.Asp50Ala
XM_011539816.1:c.149A>C XP_011538118.1:p.Asp50Ala
XM_006717861.4:c.149A>C XP_006717924.1:p.Asp50Ala
XM_011539816.3:c.149A>C XP_011538118.1:p.Asp50Ala
NM_000242.3:c.149A>C NP_000233.1:p.Asp50Ala
NM_001378373.1:c.149A>C MANE Select NP_001365302.1:p.Asp50Ala
NM_001378374.1:c.149A>C NP_001365303.1:p.Asp50Ala
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