Canonical Allele Identifier: CA2582718690
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650191_12650192insTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGC , CM000681.2:g.12650191_12650192insTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGC GRCh38
NC_000019.9:g.12761005_12761006insTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGC , CM000681.1:g.12761005_12761006insTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGC GRCh37
NC_000019.8:g.12622005_12622006insTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGC NCBI36
NG_008318.1:g.21586_21587insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2077_2078insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA MANE Select ENSP00000395473.2:p.Phe693CysfsTer?
ENST00000221363.8:c.2074_2075insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA ENSP00000221363.4:p.Phe692CysfsTer?
ENST00000456935.6:c.2077_2078insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA ENSP00000395473.2:p.Phe693CysfsTer?
ENST00000466794.5:n.2667_2668insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA
NM_000528.3:c.2077_2078insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA NP_000519.2:p.Phe693CysfsTer?
NM_001173498.1:c.2074_2075insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA NP_001166969.1:p.Phe692CysfsTer?
XM_005259913.1:c.2080_2081insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA XP_005259970.1:p.Phe694CysfsTer?
XM_011528017.1:c.976_977insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA XP_011526319.1:p.Phe326CysfsTer?
XM_005259913.2:c.2080_2081insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA XP_005259970.1:p.Phe694CysfsTer?
XM_024451518.1:c.976_977insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA XP_024307286.1:p.Phe326CysfsTer?
NM_000528.4:c.2077_2078insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA MANE Select NP_000519.2:p.Phe693CysfsTer?
NM_001173498.2:c.2074_2075insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA NP_001166969.1:p.Phe692CysfsTer?