Canonical Allele Identifier: CA404237773

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647480-C-T
• MyVariant Identifiers: chr19:g.12758294C>T (hg19) ; chr19:g.12647480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647480C>T , CM000681.2:g.12647480C>T	GRCh38
NC_000019.9:g.12758294C>T , CM000681.1:g.12758294C>T	GRCh37
NC_000019.8:g.12619294C>T	NCBI36
NG_008318.1:g.24298G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2783G>A MANE Select	ENSP00000395473.2:p.Gly928Glu
ENST00000221363.8:c.2780G>A	ENSP00000221363.4:p.Gly927Glu
ENST00000456935.6:c.2783G>A	ENSP00000395473.2:p.Gly928Glu
ENST00000466794.5:n.3373G>A
ENST00000469423.1:n.105G>A
ENST00000493218.5:n.194G>A
ENST00000597692.1:c.342G>A
NM_000528.3:c.2783G>A	NP_000519.2:p.Gly928Glu
NM_001173498.1:c.2780G>A	NP_001166969.1:p.Gly927Glu
XM_005259913.1:c.2786G>A	XP_005259970.1:p.Gly929Glu
XM_011528017.1:c.1682G>A	XP_011526319.1:p.Gly561Glu
XM_005259913.2:c.2786G>A	XP_005259970.1:p.Gly929Glu
XM_024451518.1:c.1682G>A	XP_024307286.1:p.Gly561Glu
NM_000528.4:c.2783G>A MANE Select	NP_000519.2:p.Gly928Glu
NM_001173498.2:c.2780G>A	NP_001166969.1:p.Gly927Glu