Canonical Allele Identifier: CA2609210185

Gene: MBL2

Linked Data

• gnomAD v4: 10-52771392-C-CTGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771392_52771393insTGGAT , CM000672.2:g.52771392_52771393insTGGAT	GRCh38
NC_000010.10:g.54531152_54531153insTGGAT , CM000672.1:g.54531152_54531153insTGGAT	GRCh37
NC_000010.9:g.54201158_54201159insTGGAT	NCBI36
NG_008196.1:g.5308_5309insATCCA , LRG_154:g.5308_5309insATCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.187+56_187+57insATCCA MANE Select	ENSP00000502789.1:n.187+56_187+57insATCCA...
ENST00000675947.1:c.187+56_187+57insATCCA	ENSP00000502615.1:n.187+56_187+57insATCCA...
ENST00000373968.3:c.187+56_187+57insATCCA	ENSP00000363079.3:n.187+56_187+57insATCCA...
NM_000242.2:c.187+56_187+57insATCCA , LRG_154t1:c.187+56_187+57insATCCA	NP_000233.1:n.187+56_187+57insATCCA
XM_006717861.2:c.187+56_187+57insATCCA	XP_006717924.1:n.187+56_187+57insATCCA
XM_011539816.1:c.187+56_187+57insATCCA	XP_011538118.1:n.187+56_187+57insATCCA
XM_006717861.4:c.187+56_187+57insATCCA	XP_006717924.1:n.187+56_187+57insATCCA
XM_011539816.3:c.187+56_187+57insATCCA	XP_011538118.1:n.187+56_187+57insATCCA
NM_000242.3:c.187+56_187+57insATCCA	NP_000233.1:n.187+56_187+57insATCCA
NM_001378373.1:c.187+56_187+57insATCCA MANE Select	NP_001365302.1:n.187+56_187+57insATCCA
NM_001378374.1:c.187+56_187+57insATCCA	NP_001365303.1:n.187+56_187+57insATCCA