Canonical Allele Identifier: CA2695228382

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647596_12647597del , CM000681.2:g.12647596_12647597del	GRCh38
NC_000019.9:g.12758410_12758411del , CM000681.1:g.12758410_12758411del	GRCh37
NC_000019.8:g.12619410_12619411del	NCBI36
NG_008318.1:g.24183_24184del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2668_2669del MANE Select	ENSP00000395473.2:p.Ser890ArgfsTer?
ENST00000221363.8:c.2665_2666del	ENSP00000221363.4:p.Ser889ArgfsTer?
ENST00000456935.6:c.2668_2669del	ENSP00000395473.2:p.Ser890ArgfsTer?
ENST00000466794.5:n.3258_3259del
ENST00000493218.5:n.79_80del
ENST00000597692.1:c.227_228del
NM_000528.3:c.2668_2669del	NP_000519.2:p.Ser890ArgfsTer?
NM_001173498.1:c.2665_2666del	NP_001166969.1:p.Ser889ArgfsTer?
XM_005259913.1:c.2671_2672del	XP_005259970.1:p.Ser891ArgfsTer?
XM_011528017.1:c.1567_1568del	XP_011526319.1:p.Ser523ArgfsTer?
XM_005259913.2:c.2671_2672del	XP_005259970.1:p.Ser891ArgfsTer?
XM_024451518.1:c.1567_1568del	XP_024307286.1:p.Ser523ArgfsTer?
NM_000528.4:c.2668_2669del MANE Select	NP_000519.2:p.Ser890ArgfsTer?
NM_001173498.2:c.2665_2666del	NP_001166969.1:p.Ser889ArgfsTer?