Canonical Allele Identifier: CA1910259220

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771224G= , CM000672.2:g.52771224G=	GRCh38
NC_000010.10:g.54530984G= , CM000672.1:g.54530984G=	GRCh37
NC_000010.9:g.54200990G=	NCBI36
NG_008196.1:g.5477C= , LRG_154:g.5477C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.187+225C= MANE Select	ENSP00000502789.1:n.187+225C=
ENST00000675947.1:c.187+225C=	ENSP00000502615.1:n.187+225C=
ENST00000373968.3:c.187+225C=	ENSP00000363079.3:n.187+225C=
NM_000242.2:c.187+225C= , LRG_154t1:c.187+225C=	NP_000233.1:n.187+225C=
XM_006717861.2:c.187+225C=	XP_006717924.1:n.187+225C=
XM_011539816.1:c.187+225C=	XP_011538118.1:n.187+225C=
XM_006717861.4:c.187+225C=	XP_006717924.1:n.187+225C=
XM_011539816.3:c.187+225C=	XP_011538118.1:n.187+225C=
NM_000242.3:c.187+225C=	NP_000233.1:n.187+225C=
NM_001378373.1:c.187+225C= MANE Select	NP_001365302.1:n.187+225C=
NM_001378374.1:c.187+225C=	NP_001365303.1:n.187+225C=