Canonical Allele Identifier: CA9226600
Gene: MAN2B1 HGNC NCBI

Linked Data

dbSNP Id: rs780739882

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658435G>A , CM000681.2:g.12658435G>A GRCh38
NC_000019.9:g.12769249G>A , CM000681.1:g.12769249G>A GRCh37
NC_000019.8:g.12630249G>A NCBI36
NG_008318.1:g.13343C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1102C>T MANE Select ENSP00000395473.2:p.Leu368Phe
ENST00000221363.8:c.1099C>T ENSP00000221363.4:p.Leu367Phe
ENST00000456935.6:c.1102C>T ENSP00000395473.2:p.Leu368Phe
ENST00000465830.1:n.183C>T
ENST00000466794.5:n.1009-91C>T
ENST00000495617.1:n.280+296C>T
NM_000528.3:c.1102C>T NP_000519.2:p.Leu368Phe
NM_001173498.1:c.1099C>T NP_001166969.1:p.Leu367Phe
XM_005259913.1:c.1105C>T XP_005259970.1:p.Leu369Phe
XM_011528017.1:c.9-91C>T XP_011526319.1:n.9-91C>T
XM_005259913.2:c.1105C>T XP_005259970.1:p.Leu369Phe
XM_024451518.1:c.9-91C>T XP_024307286.1:n.9-91C>T
NM_000528.4:c.1102C>T MANE Select NP_000519.2:p.Leu368Phe
NM_001173498.2:c.1099C>T NP_001166969.1:p.Leu367Phe