Canonical Allele Identifier: CA404237370
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647283G>A , CM000681.2:g.12647283G>A GRCh38
NC_000019.9:g.12758097G>A , CM000681.1:g.12758097G>A GRCh37
NC_000019.8:g.12619097G>A NCBI36
NG_008318.1:g.24495C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2873C>T MANE Select ENSP00000395473.2:p.Ala958Val
ENST00000221363.8:c.2870C>T ENSP00000221363.4:p.Ala957Val
ENST00000456935.6:c.2873C>T ENSP00000395473.2:p.Ala958Val
ENST00000466794.5:n.3463C>T
ENST00000469423.1:n.302C>T
ENST00000493218.5:n.284C>T
ENST00000597692.1:c.432C>T
NM_000528.3:c.2873C>T NP_000519.2:p.Ala958Val
NM_001173498.1:c.2870C>T NP_001166969.1:p.Ala957Val
XM_005259913.1:c.2876C>T XP_005259970.1:p.Ala959Val
XM_011528017.1:c.1772C>T XP_011526319.1:p.Ala591Val
XM_005259913.2:c.2876C>T XP_005259970.1:p.Ala959Val
XM_024451518.1:c.1772C>T XP_024307286.1:p.Ala591Val
NM_000528.4:c.2873C>T MANE Select NP_000519.2:p.Ala958Val
NM_001173498.2:c.2870C>T NP_001166969.1:p.Ala957Val