Canonical Allele Identifier: CA2500632489

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647928_12647929del , CM000681.2:g.12647928_12647929del	GRCh38
NC_000019.9:g.12758742_12758743del , CM000681.1:g.12758742_12758743del	GRCh37
NC_000019.8:g.12619742_12619743del	NCBI36
NG_008318.1:g.23849_23850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+246_2664+247del MANE Select	ENSP00000395473.2:n.2664+246_2664+247del
ENST00000221363.8:c.2661+246_2661+247del	ENSP00000221363.4:n.2661+246_2661+247del
ENST00000456935.6:c.2664+246_2664+247del	ENSP00000395473.2:n.2664+246_2664+247del
ENST00000466794.5:n.3254+246_3254+247del
ENST00000597692.1:c.223+246_223+247del
NM_000528.3:c.2664+246_2664+247del	NP_000519.2:n.2664+246_2664+247del
NM_001173498.1:c.2661+246_2661+247del	NP_001166969.1:n.2661+246_2661+247del
XM_005259913.1:c.2667+246_2667+247del	XP_005259970.1:n.2667+246_2667+247del
XM_011528017.1:c.1563+246_1563+247del	XP_011526319.1:n.1563+246_1563+247del
XM_005259913.2:c.2667+246_2667+247del	XP_005259970.1:n.2667+246_2667+247del
XM_024451518.1:c.1563+246_1563+247del	XP_024307286.1:n.1563+246_1563+247del
NM_000528.4:c.2664+246_2664+247del MANE Select	NP_000519.2:n.2664+246_2664+247del
NM_001173498.2:c.2661+246_2661+247del	NP_001166969.1:n.2661+246_2661+247del