Canonical Allele Identifier: CA275096

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 195465
• ClinVar RCV Id: RCV000176041 ; RCV000790702
• dbSNP Id: rs797044680
• gnomAD v3: 19-12649169-G-GC
• gnomAD v4: 19-12649169-G-GC
• COSMIC: COSM5071120
• MyVariant Identifiers: chr19:g.12759984dupC (hg19) ; chr19:g.12759983_12759984insC (hg19) ; chr19:g.12649170dupC (hg38) ; chr19:g.12649169_12649170insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649175dup , CM000681.2:g.12649175dup	GRCh38
NC_000019.9:g.12759989dup , CM000681.1:g.12759989dup	GRCh37
NC_000019.8:g.12620989dup	NCBI36
NG_008318.1:g.22608dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2402dup MANE Select	ENSP00000395473.2:p.Ser802GlnfsTer?
ENST00000221363.8:c.2399dup	ENSP00000221363.4:p.Ser801GlnfsTer?
ENST00000456935.6:c.2402dup	ENSP00000395473.2:p.Ser802GlnfsTer?
ENST00000466794.5:n.2992dup
NM_000528.3:c.2402dup	NP_000519.2:p.Ser802GlnfsTer?
NM_001173498.1:c.2399dup	NP_001166969.1:p.Ser801GlnfsTer?
XM_005259913.1:c.2405dup	XP_005259970.1:p.Ser803GlnfsTer?
XM_011528017.1:c.1301dup	XP_011526319.1:p.Ser435GlnfsTer?
XM_005259913.2:c.2405dup	XP_005259970.1:p.Ser803GlnfsTer?
XM_024451518.1:c.1301dup	XP_024307286.1:p.Ser435GlnfsTer?
NM_000528.4:c.2402dup MANE Select	NP_000519.2:p.Ser802GlnfsTer?
NM_001173498.2:c.2399dup	NP_001166969.1:p.Ser801GlnfsTer?