Canonical Allele Identifier: CA275096
Gene: MAN2B1 HGNC NCBI

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)
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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?
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