Canonical Allele Identifier: CA2552721915

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647913_12647914insCT , CM000681.2:g.12647913_12647914insCT	GRCh38
NC_000019.9:g.12758727_12758728insCT , CM000681.1:g.12758727_12758728insCT	GRCh37
NC_000019.8:g.12619727_12619728insCT	NCBI36
NG_008318.1:g.23864_23865insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+261_2664+262insAG MANE Select	ENSP00000395473.2:n.2664+261_2664+262insAG
ENST00000221363.8:c.2661+261_2661+262insAG	ENSP00000221363.4:n.2661+261_2661+262insAG
ENST00000456935.6:c.2664+261_2664+262insAG	ENSP00000395473.2:n.2664+261_2664+262insAG
ENST00000466794.5:n.3254+261_3254+262insAG
ENST00000597692.1:c.223+261_223+262insAG
NM_000528.3:c.2664+261_2664+262insAG	NP_000519.2:n.2664+261_2664+262insAG
NM_001173498.1:c.2661+261_2661+262insAG	NP_001166969.1:n.2661+261_2661+262insAG
XM_005259913.1:c.2667+261_2667+262insAG	XP_005259970.1:n.2667+261_2667+262insAG
XM_011528017.1:c.1563+261_1563+262insAG	XP_011526319.1:n.1563+261_1563+262insAG
XM_005259913.2:c.2667+261_2667+262insAG	XP_005259970.1:n.2667+261_2667+262insAG
XM_024451518.1:c.1563+261_1563+262insAG	XP_024307286.1:n.1563+261_1563+262insAG
NM_000528.4:c.2664+261_2664+262insAG MANE Select	NP_000519.2:n.2664+261_2664+262insAG
NM_001173498.2:c.2661+261_2661+262insAG	NP_001166969.1:n.2661+261_2661+262insAG