Canonical Allele Identifier: CA2323498575
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647317T= , CM000681.2:g.12647317T= GRCh38
NC_000019.9:g.12758131T= , CM000681.1:g.12758131T= GRCh37
NC_000019.8:g.12619131T= NCBI36
NG_008318.1:g.24461A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2839A= MANE Select ENSP00000395473.2:p.Thr947=
ENST00000221363.8:c.2836A= ENSP00000221363.4:p.Thr946=
ENST00000456935.6:c.2839A= ENSP00000395473.2:p.Thr947=
ENST00000466794.5:n.3429A=
ENST00000469423.1:n.268A=
ENST00000493218.5:n.250A=
ENST00000597692.1:c.398A=
NM_000528.3:c.2839A= NP_000519.2:p.Thr947=
NM_001173498.1:c.2836A= NP_001166969.1:p.Thr946=
XM_005259913.1:c.2842A= XP_005259970.1:p.Thr948=
XM_011528017.1:c.1738A= XP_011526319.1:p.Thr580=
XM_005259913.2:c.2842A= XP_005259970.1:p.Thr948=
XM_024451518.1:c.1738A= XP_024307286.1:p.Thr580=
NM_000528.4:c.2839A= MANE Select NP_000519.2:p.Thr947=
NM_001173498.2:c.2836A= NP_001166969.1:p.Thr946=