Canonical Allele Identifier: CA1910258827

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52770390G= , CM000672.2:g.52770390G=	GRCh38
NC_000010.10:g.54530150G= , CM000672.1:g.54530150G=	GRCh37
NC_000010.9:g.54200156G=	NCBI36
NG_008196.1:g.6311C= , LRG_154:g.6311C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.304+280C= MANE Select	ENSP00000502789.1:n.304+280C=
ENST00000675947.1:c.304+280C=	ENSP00000502615.1:n.304+280C=
ENST00000373968.3:c.304+280C=	ENSP00000363079.3:n.304+280C=
NM_000242.2:c.304+280C= , LRG_154t1:c.304+280C=	NP_000233.1:n.304+280C=
XM_006717861.2:c.304+280C=	XP_006717924.1:n.304+280C=
XM_011539816.1:c.304+280C=	XP_011538118.1:n.304+280C=
XM_006717861.4:c.304+280C=	XP_006717924.1:n.304+280C=
XM_011539816.3:c.304+280C=	XP_011538118.1:n.304+280C=
NM_000242.3:c.304+280C=	NP_000233.1:n.304+280C=
NM_001378373.1:c.304+280C= MANE Select	NP_001365302.1:n.304+280C=
NM_001378374.1:c.304+280C=	NP_001365303.1:n.304+280C=