Canonical Allele Identifier: CA404248501
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658428C>A , CM000681.2:g.12658428C>A GRCh38
NC_000019.9:g.12769242C>A , CM000681.1:g.12769242C>A GRCh37
NC_000019.8:g.12630242C>A NCBI36
NG_008318.1:g.13350G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1109G>T MANE Select ENSP00000395473.2:p.Trp370Leu
ENST00000221363.8:c.1106G>T ENSP00000221363.4:p.Trp369Leu
ENST00000456935.6:c.1109G>T ENSP00000395473.2:p.Trp370Leu
ENST00000465830.1:n.190G>T
ENST00000466794.5:n.1009-84G>T
ENST00000495617.1:n.280+303G>T
NM_000528.3:c.1109G>T NP_000519.2:p.Trp370Leu
NM_001173498.1:c.1106G>T NP_001166969.1:p.Trp369Leu
XM_005259913.1:c.1112G>T XP_005259970.1:p.Trp371Leu
XM_011528017.1:c.9-84G>T XP_011526319.1:n.9-84G>T
XM_005259913.2:c.1112G>T XP_005259970.1:p.Trp371Leu
XM_024451518.1:c.9-84G>T XP_024307286.1:n.9-84G>T
NM_000528.4:c.1109G>T MANE Select NP_000519.2:p.Trp370Leu
NM_001173498.2:c.1106G>T NP_001166969.1:p.Trp369Leu