Canonical Allele Identifier: CA404243190
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650127C>T , CM000681.2:g.12650127C>T GRCh38
NC_000019.9:g.12760941C>T , CM000681.1:g.12760941C>T GRCh37
NC_000019.8:g.12621941C>T NCBI36
NG_008318.1:g.21651G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.2142G>A MANE Select ENSP00000395473.2:p.Trp714Ter
ENST00000221363.8:c.2139G>A ENSP00000221363.4:p.Trp713Ter
ENST00000456935.6:c.2142G>A ENSP00000395473.2:p.Trp714Ter
ENST00000466794.5:n.2732G>A
NM_000528.3:c.2142G>A NP_000519.2:p.Trp714Ter
NM_001173498.1:c.2139G>A NP_001166969.1:p.Trp713Ter
XM_005259913.1:c.2145G>A XP_005259970.1:p.Trp715Ter
XM_011528017.1:c.1041G>A XP_011526319.1:p.Trp347Ter
XM_005259913.2:c.2145G>A XP_005259970.1:p.Trp715Ter
XM_024451518.1:c.1041G>A XP_024307286.1:p.Trp347Ter
NM_000528.4:c.2142G>A MANE Select NP_000519.2:p.Trp714Ter
NM_001173498.2:c.2139G>A NP_001166969.1:p.Trp713Ter