Canonical Allele Identifier: CA16041959
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371058
ClinVar RCV Id: RCV000409925
dbSNP Id: rs1057516972
MyVariant Identifiers: chr19:g.12777423dupC (hg19) chr19:g.12777422_12777423insC (hg19) chr19:g.12666609dupC (hg38) chr19:g.12666608_12666609insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12666609dup , CM000681.2:g.12666609dup GRCh38
NC_000019.9:g.12777423dup , CM000681.1:g.12777423dup GRCh37
NC_000019.8:g.12638423dup NCBI36
NG_008318.1:g.5169dup
NG_015814.1:g.4806dup

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.93dup MANE Select ENSP00000395473.2:p.Leu32AlafsTer?
ENST00000221363.8:c.93dup ENSP00000221363.4:p.Leu32AlafsTer?
ENST00000456935.6:c.93dup ENSP00000395473.2:p.Leu32AlafsTer?
ENST00000466794.5:n.75dup
ENST00000486847.2:c.93dup ENSP00000470174.1:p.Leu32AlafsTer?
ENST00000596512.5:n.134dup
ENST00000597961.1:c.151-804dup ENSP00000472710.1:n.151-804dup
ENST00000598876.1:c.93dup ENSP00000470533.1:p.Leu32AlafsTer?
ENST00000600281.1:n.134dup
NM_000528.3:c.93dup NP_000519.2:p.Leu32AlafsTer?
NM_001173498.1:c.93dup NP_001166969.1:p.Leu32AlafsTer?
XM_005259913.1:c.93dup XP_005259970.1:p.Leu32AlafsTer?
XM_005259913.2:c.93dup XP_005259970.1:p.Leu32AlafsTer?
XM_024451518.1:c.-926dup XP_024307286.1:n.-926dup
NM_000528.4:c.93dup MANE Select NP_000519.2:p.Leu32AlafsTer?
NM_001173498.2:c.93dup NP_001166969.1:p.Leu32AlafsTer?
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