Canonical Allele Identifier: CA2695198134

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2676422
• ClinVar RCV Id: RCV003461823

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650143_12650144del , CM000681.2:g.12650143_12650144del	GRCh38
NC_000019.9:g.12760957_12760958del , CM000681.1:g.12760957_12760958del	GRCh37
NC_000019.8:g.12621957_12621958del	NCBI36
NG_008318.1:g.21635_21636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2126_2127del MANE Select	ENSP00000395473.2:p.His709ProfsTer25
ENST00000221363.8:c.2123_2124del	ENSP00000221363.4:p.His708ProfsTer25
ENST00000456935.6:c.2126_2127del	ENSP00000395473.2:p.His709ProfsTer25
ENST00000466794.5:n.2716_2717del
NM_000528.3:c.2126_2127del	NP_000519.2:p.His709ProfsTer25
NM_001173498.1:c.2123_2124del	NP_001166969.1:p.His708ProfsTer25
XM_005259913.1:c.2129_2130del	XP_005259970.1:p.His710ProfsTer25
XM_011528017.1:c.1025_1026del	XP_011526319.1:p.His342ProfsTer25
XM_005259913.2:c.2129_2130del	XP_005259970.1:p.His710ProfsTer25
XM_024451518.1:c.1025_1026del	XP_024307286.1:p.His342ProfsTer25
NM_000528.4:c.2126_2127del MANE Select	NP_000519.2:p.His709ProfsTer25
NM_001173498.2:c.2123_2124del	NP_001166969.1:p.His708ProfsTer25