Canonical Allele Identifier: CA404240179

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12648328C>T , CM000681.2:g.12648328C>T	GRCh38
NC_000019.9:g.12759142C>T , CM000681.1:g.12759142C>T	GRCh37
NC_000019.8:g.12620142C>T	NCBI36
NG_008318.1:g.23450G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2511G>A MANE Select	NP_000519.2:p.Trp837Ter
ENST00000456935.7:c.2511G>A MANE Select	ENSP00000395473.2:p.Trp837Ter
NM_000528.3:c.2511G>A	NP_000519.2:p.Trp837Ter
NM_001173498.1:c.2508G>A	NP_001166969.1:p.Trp836Ter
NM_001173498.2:c.2508G>A	NP_001166969.1:p.Trp836Ter
ENST00000221363.8:c.2508G>A	ENSP00000221363.4:p.Trp836Ter
ENST00000456935.6:c.2511G>A	ENSP00000395473.2:p.Trp837Ter
ENST00000466794.5:n.3101G>A
ENST00000597692.1:c.70G>A
XM_005259913.1:c.2514G>A	XP_005259970.1:p.Trp838Ter
XM_005259913.2:c.2514G>A	XP_005259970.1:p.Trp838Ter
XM_011528017.1:c.1410G>A	XP_011526319.1:p.Trp470Ter
XM_024451518.1:c.1410G>A	XP_024307286.1:p.Trp470Ter