Canonical Allele Identifier: CA376540267
Gene: MBL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771598C>A , CM000672.2:g.52771598C>A GRCh38
NC_000010.10:g.54531358C>A , CM000672.1:g.54531358C>A GRCh37
NC_000010.9:g.54201364C>A NCBI36
NG_008196.1:g.5103G>T , LRG_154:g.5103G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.38G>T MANE Select ENSP00000502789.1:p.Ser13Ile
ENST00000675947.1:c.38G>T ENSP00000502615.1:p.Ser13Ile
ENST00000373968.3:c.38G>T ENSP00000363079.3:p.Ser13Ile
NM_000242.2:c.38G>T , LRG_154t1:c.38G>T NP_000233.1:p.Ser13Ile
XM_006717861.2:c.38G>T XP_006717924.1:p.Ser13Ile
XM_011539816.1:c.38G>T XP_011538118.1:p.Ser13Ile
XM_006717861.4:c.38G>T XP_006717924.1:p.Ser13Ile
XM_011539816.3:c.38G>T XP_011538118.1:p.Ser13Ile
NM_000242.3:c.38G>T NP_000233.1:p.Ser13Ile
NM_001378373.1:c.38G>T MANE Select NP_001365302.1:p.Ser13Ile
NM_001378374.1:c.38G>T NP_001365303.1:p.Ser13Ile