Canonical Allele Identifier: CA16041946
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371303
ClinVar RCV Id: RCV000410754
dbSNP Id: rs1057517166
MyVariant Identifiers: chr19:g.12761037C>T (hg19) chr19:g.12650223C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650223C>T , CM000681.2:g.12650223C>T GRCh38
NC_000019.9:g.12761037C>T , CM000681.1:g.12761037C>T GRCh37
NC_000019.8:g.12622037C>T NCBI36
NG_008318.1:g.21555G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.2047-1G>A MANE Select ENSP00000395473.2:n.2047-1G>A
ENST00000221363.8:c.2044-1G>A ENSP00000221363.4:n.2044-1G>A
ENST00000456935.6:c.2047-1G>A ENSP00000395473.2:n.2047-1G>A
ENST00000466794.5:n.2637-1G>A
NM_000528.3:c.2047-1G>A NP_000519.2:n.2047-1G>A
NM_001173498.1:c.2044-1G>A NP_001166969.1:n.2044-1G>A
XM_005259913.1:c.2050-1G>A XP_005259970.1:n.2050-1G>A
XM_011528017.1:c.946-1G>A XP_011526319.1:n.946-1G>A
XM_005259913.2:c.2050-1G>A XP_005259970.1:n.2050-1G>A
XM_024451518.1:c.946-1G>A XP_024307286.1:n.946-1G>A
NM_000528.4:c.2047-1G>A MANE Select NP_000519.2:n.2047-1G>A
NM_001173498.2:c.2044-1G>A NP_001166969.1:n.2044-1G>A
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