Canonical Allele Identifier: CA2323498664
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647496C= , CM000681.2:g.12647496C= GRCh38
NC_000019.9:g.12758310C= , CM000681.1:g.12758310C= GRCh37
NC_000019.8:g.12619310C= NCBI36
NG_008318.1:g.24282G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2767G= MANE Select ENSP00000395473.2:p.Val923=
ENST00000221363.8:c.2764G= ENSP00000221363.4:p.Val922=
ENST00000456935.6:c.2767G= ENSP00000395473.2:p.Val923=
ENST00000466794.5:n.3357G=
ENST00000469423.1:n.89G=
ENST00000493218.5:n.178G=
ENST00000597692.1:c.326G=
NM_000528.3:c.2767G= NP_000519.2:p.Val923=
NM_001173498.1:c.2764G= NP_001166969.1:p.Val922=
XM_005259913.1:c.2770G= XP_005259970.1:p.Val924=
XM_011528017.1:c.1666G= XP_011526319.1:p.Val556=
XM_005259913.2:c.2770G= XP_005259970.1:p.Val924=
XM_024451518.1:c.1666G= XP_024307286.1:p.Val556=
NM_000528.4:c.2767G= MANE Select NP_000519.2:p.Val923=
NM_001173498.2:c.2764G= NP_001166969.1:p.Val922=