Canonical Allele Identifier: CA2323499974
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12649885C= , CM000681.2:g.12649885C= GRCh38
NC_000019.9:g.12760699C= , CM000681.1:g.12760699C= GRCh37
NC_000019.8:g.12621699C= NCBI36
NG_008318.1:g.21893G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2267+28G= MANE Select ENSP00000395473.2:n.2267+28G=
ENST00000221363.8:c.2264+28G= ENSP00000221363.4:n.2264+28G=
ENST00000456935.6:c.2267+28G= ENSP00000395473.2:n.2267+28G=
ENST00000466794.5:n.2857+28G=
NM_000528.3:c.2267+28G= NP_000519.2:n.2267+28G=
NM_001173498.1:c.2264+28G= NP_001166969.1:n.2264+28G=
XM_005259913.1:c.2270+28G= XP_005259970.1:n.2270+28G=
XM_011528017.1:c.1166+28G= XP_011526319.1:n.1166+28G=
XM_005259913.2:c.2270+28G= XP_005259970.1:n.2270+28G=
XM_024451518.1:c.1166+28G= XP_024307286.1:n.1166+28G=
NM_000528.4:c.2267+28G= MANE Select NP_000519.2:n.2267+28G=
NM_001173498.2:c.2264+28G= NP_001166969.1:n.2264+28G=