Canonical Allele Identifier: CA404255872
Gene: MAN2B1 HGNC NCBI

Linked Data

dbSNP Id: rs1343803488

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665363A>G , CM000681.2:g.12665363A>G GRCh38
NC_000019.9:g.12776177A>G , CM000681.1:g.12776177A>G GRCh37
NC_000019.8:g.12637177A>G NCBI36
NG_008318.1:g.6415T>C
NG_015814.1:g.3560A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.425T>C MANE Select ENSP00000395473.2:p.Leu142Pro
ENST00000221363.8:c.425T>C ENSP00000221363.4:p.Leu142Pro
ENST00000456935.6:c.425T>C ENSP00000395473.2:p.Leu142Pro
ENST00000466794.5:n.407T>C
ENST00000486847.2:c.322T>C ENSP00000470174.1:p.Leu108=
ENST00000596512.5:n.363T>C
ENST00000597961.1:c.416T>C ENSP00000472710.1:p.Leu139Pro
ENST00000598876.1:c.452T>C ENSP00000470533.1:p.Leu151Pro
ENST00000600281.1:n.466T>C
NM_000528.3:c.425T>C NP_000519.2:p.Leu142Pro
NM_001173498.1:c.425T>C NP_001166969.1:p.Leu142Pro
XM_005259913.1:c.425T>C XP_005259970.1:p.Leu142Pro
XM_005259913.2:c.425T>C XP_005259970.1:p.Leu142Pro
XM_024451518.1:c.-594T>C XP_024307286.1:n.-594T>C
NM_000528.4:c.425T>C MANE Select NP_000519.2:p.Leu142Pro
NM_001173498.2:c.425T>C NP_001166969.1:p.Leu142Pro