Canonical Allele Identifier: CA631833144
Gene: MAN2B1 HGNC NCBI

Linked Data

dbSNP Id: rs1348060173

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650642_12650645dup , CM000681.2:g.12650642_12650645dup GRCh38
NC_000019.9:g.12761456_12761459dup , CM000681.1:g.12761456_12761459dup GRCh37
NC_000019.8:g.12622456_12622459dup NCBI36
NG_008318.1:g.21134_21137dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2047-422_2047-419dup MANE Select ENSP00000395473.2:n.2047-422_2047-419dup
ENST00000221363.8:c.2044-422_2044-419dup ENSP00000221363.4:n.2044-422_2044-419dup
ENST00000456935.6:c.2047-422_2047-419dup ENSP00000395473.2:n.2047-422_2047-419dup
ENST00000466794.5:n.2637-422_2637-419dup
NM_000528.3:c.2047-422_2047-419dup NP_000519.2:n.2047-422_2047-419dup
NM_001173498.1:c.2044-422_2044-419dup NP_001166969.1:n.2044-422_2044-419dup
XM_005259913.1:c.2050-422_2050-419dup XP_005259970.1:n.2050-422_2050-419dup
XM_011528017.1:c.946-422_946-419dup XP_011526319.1:n.946-422_946-419dup
XM_005259913.2:c.2050-422_2050-419dup XP_005259970.1:n.2050-422_2050-419dup
XM_024451518.1:c.946-422_946-419dup XP_024307286.1:n.946-422_946-419dup
NM_000528.4:c.2047-422_2047-419dup MANE Select NP_000519.2:n.2047-422_2047-419dup
NM_001173498.2:c.2044-422_2044-419dup NP_001166969.1:n.2044-422_2044-419dup