Canonical Allele Identifier: CA2323498750
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647629_12647630delinsGA , CM000681.2:g.12647629_12647630delinsGA GRCh38
NC_000019.9:g.12758443_12758444delinsGA , CM000681.1:g.12758443_12758444delinsGA GRCh37
NC_000019.8:g.12619443_12619444delinsGA NCBI36
NG_008318.1:g.24148_24149delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2665-32_2665-31delinsTC MANE Select ENSP00000395473.2:n.2665-32_2665-31delinsTC
ENST00000221363.8:c.2662-32_2662-31delinsTC ENSP00000221363.4:n.2662-32_2662-31delinsTC
ENST00000456935.6:c.2665-32_2665-31delinsTC ENSP00000395473.2:n.2665-32_2665-31delinsTC
ENST00000466794.5:n.3255-32_3255-31delinsTC
ENST00000493218.5:n.44_45delinsTC
ENST00000597692.1:c.224-32_224-31delinsTC
NM_000528.3:c.2665-32_2665-31delinsTC NP_000519.2:n.2665-32_2665-31delinsTC
NM_001173498.1:c.2662-32_2662-31delinsTC NP_001166969.1:n.2662-32_2662-31delinsTC
XM_005259913.1:c.2668-32_2668-31delinsTC XP_005259970.1:n.2668-32_2668-31delinsTC
XM_011528017.1:c.1564-32_1564-31delinsTC XP_011526319.1:n.1564-32_1564-31delinsTC
XM_005259913.2:c.2668-32_2668-31delinsTC XP_005259970.1:n.2668-32_2668-31delinsTC
XM_024451518.1:c.1564-32_1564-31delinsTC XP_024307286.1:n.1564-32_1564-31delinsTC
NM_000528.4:c.2665-32_2665-31delinsTC MANE Select NP_000519.2:n.2665-32_2665-31delinsTC
NM_001173498.2:c.2662-32_2662-31delinsTC NP_001166969.1:n.2662-32_2662-31delinsTC