Canonical Allele Identifier: CA2831039037

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665800dup , CM000681.2:g.12665800dup	GRCh38
NC_000019.9:g.12776614dup , CM000681.1:g.12776614dup	GRCh37
NC_000019.8:g.12637614dup	NCBI36
NG_008318.1:g.5981dup
NG_015814.1:g.3997dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.168dup MANE Select	ENSP00000395473.2:p.Thr57HisfsTer17
ENST00000221363.8:c.168dup	ENSP00000221363.4:p.Thr57HisfsTer17
ENST00000456935.6:c.168dup	ENSP00000395473.2:p.Thr57HisfsTer17
ENST00000466794.5:n.150dup
ENST00000486847.2:c.160-272dup	ENSP00000470174.1:n.160-272dup
ENST00000596512.5:n.201-272dup
ENST00000597961.1:c.159dup	ENSP00000472710.1:p.Thr54HisfsTer17
ENST00000598876.1:c.195dup	ENSP00000470533.1:p.Thr66HisfsTer17
ENST00000600281.1:n.209dup
NM_000528.3:c.168dup	NP_000519.2:p.Thr57HisfsTer17
NM_001173498.1:c.168dup	NP_001166969.1:p.Thr57HisfsTer17
XM_005259913.1:c.168dup	XP_005259970.1:p.Thr57HisfsTer17
XM_005259913.2:c.168dup	XP_005259970.1:p.Thr57HisfsTer17
XM_024451518.1:c.-851dup	XP_024307286.1:n.-851dup
NM_000528.4:c.168dup MANE Select	NP_000519.2:p.Thr57HisfsTer17
NM_001173498.2:c.168dup	NP_001166969.1:p.Thr57HisfsTer17