Canonical Allele Identifier: CA404248136
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2894547
ClinVar RCV Id: RCV003601009
MyVariant Identifiers: chr19:g.12769104C>T (hg19) chr19:g.12658290C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658290C>T , CM000681.2:g.12658290C>T GRCh38
NC_000019.9:g.12769104C>T , CM000681.1:g.12769104C>T GRCh37
NC_000019.8:g.12630104C>T NCBI36
NG_008318.1:g.13488G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1164G>A MANE Select ENSP00000395473.2:p.Trp388Ter
ENST00000221363.8:c.1161G>A ENSP00000221363.4:p.Trp387Ter
ENST00000456935.6:c.1164G>A ENSP00000395473.2:p.Trp388Ter
ENST00000465830.1:n.328G>A
ENST00000466794.5:n.1063G>A
ENST00000495617.1:n.280+441G>A
NM_000528.3:c.1164G>A NP_000519.2:p.Trp388Ter
NM_001173498.1:c.1161G>A NP_001166969.1:p.Trp387Ter
XM_005259913.1:c.1167G>A XP_005259970.1:p.Trp389Ter
XM_011528017.1:c.63G>A XP_011526319.1:p.Trp21Ter
XM_005259913.2:c.1167G>A XP_005259970.1:p.Trp389Ter
XM_024451518.1:c.63G>A XP_024307286.1:p.Trp21Ter
NM_000528.4:c.1164G>A MANE Select NP_000519.2:p.Trp388Ter
NM_001173498.2:c.1161G>A NP_001166969.1:p.Trp387Ter
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