Canonical Allele Identifier: CA9226211
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328263
ClinVar RCV Id: RCV000371511
dbSNP Id: rs200424566

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650227G>A , CM000681.2:g.12650227G>A GRCh38
NC_000019.9:g.12761041G>A , CM000681.1:g.12761041G>A GRCh37
NC_000019.8:g.12622041G>A NCBI36
NG_008318.1:g.21551C>T

Transcript Alleles

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