Canonical Allele Identifier: CA1910259684
Gene: MBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772196A= , CM000672.2:g.52772196A= GRCh38
NC_000010.10:g.54531956A= , CM000672.1:g.54531956A= GRCh37
NC_000010.9:g.54201962A= NCBI36
NG_008196.1:g.4505T= , LRG_154:g.4505T=

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-10+541T= MANE Select ENSP00000502789.1:n.-10+541T=
ENST00000675947.1:c.-24-537T= ENSP00000502615.1:n.-24-537T=
XM_006717861.2:c.-24-537T= XP_006717924.1:n.-24-537T=
XM_011539816.1:c.-10+541T= XP_011538118.1:n.-10+541T=
XM_006717861.4:c.-24-537T= XP_006717924.1:n.-24-537T=
XM_011539816.3:c.-10+541T= XP_011538118.1:n.-10+541T=
NM_001378373.1:c.-10+541T= MANE Select NP_001365302.1:n.-10+541T=
NM_001378374.1:c.-24-537T= NP_001365303.1:n.-24-537T=