Canonical Allele Identifier: CA666360366

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771389C>A , CM000672.2:g.52771389C>A	GRCh38
NC_000010.10:g.54531149C>A , CM000672.1:g.54531149C>A	GRCh37
NC_000010.9:g.54201155C>A	NCBI36
NG_008196.1:g.5312G>T , LRG_154:g.5312G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378373.1:c.187+60G>T MANE Select	NP_001365302.1:n.187+60G>T
ENST00000674931.1:c.187+60G>T MANE Select	ENSP00000502789.1:n.187+60G>T
NM_000242.2:c.187+60G>T , LRG_154t1:c.187+60G>T	NP_000233.1:n.187+60G>T
NM_000242.3:c.187+60G>T	NP_000233.1:n.187+60G>T
NM_001378374.1:c.187+60G>T	NP_001365303.1:n.187+60G>T
ENST00000373968.3:c.187+60G>T	ENSP00000363079.3:n.187+60G>T
ENST00000675947.1:c.187+60G>T	ENSP00000502615.1:n.187+60G>T
XM_006717861.2:c.187+60G>T	XP_006717924.1:n.187+60G>T
XM_006717861.4:c.187+60G>T	XP_006717924.1:n.187+60G>T
XM_011539816.1:c.187+60G>T	XP_011538118.1:n.187+60G>T
XM_011539816.3:c.187+60G>T	XP_011538118.1:n.187+60G>T