Canonical Allele Identifier: CA2499225375

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1073277
• ClinVar RCV Id: RCV001386235 ; RCV001820085
• dbSNP Id: rs2145262260

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658490dup , CM000681.2:g.12658490dup	GRCh38
NC_000019.9:g.12769304dup , CM000681.1:g.12769304dup	GRCh37
NC_000019.8:g.12630304dup	NCBI36
NG_008318.1:g.13289dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1048dup MANE Select	ENSP00000395473.2:p.His350ProfsTer26
ENST00000221363.8:c.1045dup	ENSP00000221363.4:p.His349ProfsTer26
ENST00000456935.6:c.1048dup	ENSP00000395473.2:p.His350ProfsTer26
ENST00000465830.1:n.129dup
ENST00000466794.5:n.1009-145dup
ENST00000495617.1:n.280+242dup
NM_000528.3:c.1048dup	NP_000519.2:p.His350ProfsTer26
NM_001173498.1:c.1045dup	NP_001166969.1:p.His349ProfsTer26
XM_005259913.1:c.1051dup	XP_005259970.1:p.His351ProfsTer26
XM_011528017.1:c.9-145dup	XP_011526319.1:n.9-145dup
XM_005259913.2:c.1051dup	XP_005259970.1:p.His351ProfsTer26
XM_024451518.1:c.9-145dup	XP_024307286.1:n.9-145dup
NM_000528.4:c.1048dup MANE Select	NP_000519.2:p.His350ProfsTer26
NM_001173498.2:c.1045dup	NP_001166969.1:p.His349ProfsTer26