Canonical Allele Identifier: CA993664467

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12647900-GGC-G
• gnomAD v4: 19-12647900-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647902_12647903del , CM000681.2:g.12647902_12647903del	GRCh38
NC_000019.9:g.12758716_12758717del , CM000681.1:g.12758716_12758717del	GRCh37
NC_000019.8:g.12619716_12619717del	NCBI36
NG_008318.1:g.23876_23877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+273_2664+274del MANE Select	ENSP00000395473.2:n.2664+273_2664+274del
ENST00000221363.8:c.2661+273_2661+274del	ENSP00000221363.4:n.2661+273_2661+274del
ENST00000456935.6:c.2664+273_2664+274del	ENSP00000395473.2:n.2664+273_2664+274del
ENST00000466794.5:n.3254+273_3254+274del
ENST00000597692.1:c.223+273_223+274del
NM_000528.3:c.2664+273_2664+274del	NP_000519.2:n.2664+273_2664+274del
NM_001173498.1:c.2661+273_2661+274del	NP_001166969.1:n.2661+273_2661+274del
XM_005259913.1:c.2667+273_2667+274del	XP_005259970.1:n.2667+273_2667+274del
XM_011528017.1:c.1563+273_1563+274del	XP_011526319.1:n.1563+273_1563+274del
XM_005259913.2:c.2667+273_2667+274del	XP_005259970.1:n.2667+273_2667+274del
XM_024451518.1:c.1563+273_1563+274del	XP_024307286.1:n.1563+273_1563+274del
NM_000528.4:c.2664+273_2664+274del MANE Select	NP_000519.2:n.2664+273_2664+274del
NM_001173498.2:c.2661+273_2661+274del	NP_001166969.1:n.2661+273_2661+274del