Canonical Allele Identifier: CA9226624

Gene: MAN2B1

Linked Data

• dbSNP Id: rs758704192
• ExAC: 19:12769371 CT / C
• gnomAD v2: 19-12769371-CT-C
• gnomAD v4: 19-12658557-CT-C
• MyVariant Identifiers: chr19:g.12769372del (hg19) ; chr19:g.12658558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658558del , CM000681.2:g.12658558del	GRCh38
NC_000019.9:g.12769372del , CM000681.1:g.12769372del	GRCh37
NC_000019.8:g.12630372del	NCBI36
NG_008318.1:g.13220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-48del MANE Select	ENSP00000395473.2:n.1027-48del
ENST00000221363.8:c.1027-51del	ENSP00000221363.4:n.1027-51del
ENST00000456935.6:c.1027-48del	ENSP00000395473.2:n.1027-48del
ENST00000465830.1:n.60del
ENST00000466794.5:n.1009-214del
ENST00000495617.1:n.280+173del
NM_000528.3:c.1027-48del	NP_000519.2:n.1027-48del
NM_001173498.1:c.1027-51del	NP_001166969.1:n.1027-51del
XM_005259913.1:c.1027-45del	XP_005259970.1:n.1027-45del
XM_011528017.1:c.9-214del	XP_011526319.1:n.9-214del
XM_005259913.2:c.1027-45del	XP_005259970.1:n.1027-45del
XM_024451518.1:c.9-214del	XP_024307286.1:n.9-214del
NM_000528.4:c.1027-48del MANE Select	NP_000519.2:n.1027-48del
NM_001173498.2:c.1027-51del	NP_001166969.1:n.1027-51del