Canonical Allele Identifier: CA1910259300
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771442C= , CM000672.2:g.52771442C= GRCh38
NC_000010.10:g.54531202C= , CM000672.1:g.54531202C= GRCh37
NC_000010.9:g.54201208C= NCBI36
NG_008196.1:g.5259G= , LRG_154:g.5259G=

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.187+7G= MANE Select ENSP00000502789.1:n.187+7G=
ENST00000675947.1:c.187+7G= ENSP00000502615.1:n.187+7G=
ENST00000373968.3:c.187+7G= ENSP00000363079.3:n.187+7G=
NM_000242.2:c.187+7G= , LRG_154t1:c.187+7G= NP_000233.1:n.187+7G=
XM_006717861.2:c.187+7G= XP_006717924.1:n.187+7G=
XM_011539816.1:c.187+7G= XP_011538118.1:n.187+7G=
XM_006717861.4:c.187+7G= XP_006717924.1:n.187+7G=
XM_011539816.3:c.187+7G= XP_011538118.1:n.187+7G=
NM_000242.3:c.187+7G= NP_000233.1:n.187+7G=
NM_001378373.1:c.187+7G= MANE Select NP_001365302.1:n.187+7G=
NM_001378374.1:c.187+7G= NP_001365303.1:n.187+7G=