Canonical Allele Identifier: CA3026815
Community Standard Title: NM_005908.4(MANBA):c.1705-2A>G
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102650703T>C , CM000666.2:g.102650703T>C GRCh38
NC_000004.11:g.103571860T>C , CM000666.1:g.103571860T>C GRCh37
NC_000004.10:g.103790908T>C NCBI36
NG_012804.1:g.115292A>G
NG_012804.2:g.115292A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.1705-2A>G MANE Select NP_005899.3:n.1705-2A>G
ENST00000647097.2:c.1705-2A>G MANE Select ENSP00000495247.1:n.1705-2A>G
NM_005908.3:c.1705-2A>G NP_005899.3:n.1705-2A>G
ENST00000226578.8:c.1705-2A>G ENSP00000226578.4:n.1705-2A>G
ENST00000505239.1:c.1534-2A>G ENSP00000427322.1:n.1534-2A>G
ENST00000508141.1:n.136A>G
ENST00000514430.5:n.5940-2A>G
ENST00000642252.1:c.1843-2A>G ENSP00000495483.1:n.1843-2A>G
ENST00000644159.1:c.1705-2A>G ENSP00000494462.1:n.1705-2A>G
ENST00000644545.1:c.*345-2A>G ENSP00000493992.1:n.*345-2A>G
ENST00000645348.1:c.*727-2A>G ENSP00000495363.1:n.*727-2A>G
ENST00000645558.1:c.1373-2A>G
ENST00000646311.1:c.*825-2A>G ENSP00000493465.1:n.*825-2A>G
ENST00000646727.1:c.*559-2A>G ENSP00000493519.1:n.*559-2A>G
ENST00000647129.1:c.1794-2A>G ENSP00000496137.1:n.1794-2A>G
XM_011531965.1:c.799-2A>G XP_011530267.1:n.799-2A>G
XM_011531966.1:c.460-2A>G XP_011530268.1:n.460-2A>G
XM_017008203.1:c.1342-2A>G XP_016863692.1:n.1342-2A>G
XM_017008204.2:c.1057-2A>G XP_016863693.1:n.1057-2A>G
XM_017008205.2:c.499-2A>G XP_016863694.1:n.499-2A>G
XM_024454048.1:c.1630-2A>G XP_024309816.1:n.1630-2A>G
XM_024454049.1:c.1342-2A>G XP_024309817.1:n.1342-2A>G