Canonical Allele Identifier: CA5504258

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52768151C>T , CM000672.2:g.52768151C>T	GRCh38
NC_000010.10:g.54527911C>T , CM000672.1:g.54527911C>T	GRCh37
NC_000010.9:g.54197917C>T	NCBI36
NG_008196.1:g.8550G>A , LRG_154:g.8550G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378373.1:c.733G>A MANE Select	NP_001365302.1:p.Glu245Lys
ENST00000674931.1:c.733G>A MANE Select	ENSP00000502789.1:p.Glu245Lys
NM_000242.2:c.733G>A , LRG_154t1:c.733G>A	NP_000233.1:p.Glu245Lys
NM_000242.3:c.733G>A	NP_000233.1:p.Glu245Lys
NM_001378374.1:c.733G>A	NP_001365303.1:p.Glu245Lys
ENST00000373968.3:c.733G>A	ENSP00000363079.3:p.Glu245Lys
ENST00000675947.1:c.733G>A	ENSP00000502615.1:p.Glu245Lys
XM_006717861.2:c.733G>A	XP_006717924.1:p.Glu245Lys
XM_006717861.4:c.733G>A	XP_006717924.1:p.Glu245Lys
XM_011539816.1:c.733G>A	XP_011538118.1:p.Glu245Lys
XM_011539816.3:c.733G>A	XP_011538118.1:p.Glu245Lys