Canonical Allele Identifier: CA2958208776

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664960del , CM000681.2:g.12664960del	GRCh38
NC_000019.9:g.12775774del , CM000681.1:g.12775774del	GRCh37
NC_000019.8:g.12636774del	NCBI36
NG_008318.1:g.6818del
NG_015814.1:g.3157del

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.462del MANE Select	NP_000519.2:p.Trp155GlyfsTer2
ENST00000456935.7:c.462del MANE Select	ENSP00000395473.2:p.Trp155GlyfsTer2
NM_000528.3:c.462del	NP_000519.2:p.Trp155GlyfsTer2
NM_001173498.1:c.462del	NP_001166969.1:p.Trp155GlyfsTer2
NM_001173498.2:c.462del	NP_001166969.1:p.Trp155GlyfsTer2
ENST00000221363.8:c.462del	ENSP00000221363.4:p.Trp155GlyfsTer2
ENST00000456935.6:c.462del	ENSP00000395473.2:p.Trp155GlyfsTer2
ENST00000466794.5:n.444del
ENST00000486847.2:c.333+392del	ENSP00000470174.1:n.333+392del
ENST00000596512.5:n.400del
ENST00000597961.1:c.453del	ENSP00000472710.1:p.Trp152GlyfsTer2
ENST00000598876.1:c.489del	ENSP00000470533.1:p.Trp164GlyfsTer2
XM_005259913.1:c.462del	XP_005259970.1:p.Trp155GlyfsTer2
XM_005259913.2:c.462del	XP_005259970.1:p.Trp155GlyfsTer2
XM_024451518.1:c.-557del	XP_024307286.1:n.-557del