Canonical Allele Identifier: CA404237911

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647511-C-T
• MyVariant Identifiers: chr19:g.12758325C>T (hg19) ; chr19:g.12647511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647511C>T , CM000681.2:g.12647511C>T	GRCh38
NC_000019.9:g.12758325C>T , CM000681.1:g.12758325C>T	GRCh37
NC_000019.8:g.12619325C>T	NCBI36
NG_008318.1:g.24267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2752G>A MANE Select	ENSP00000395473.2:p.Glu918Lys
ENST00000221363.8:c.2749G>A	ENSP00000221363.4:p.Glu917Lys
ENST00000456935.6:c.2752G>A	ENSP00000395473.2:p.Glu918Lys
ENST00000466794.5:n.3342G>A
ENST00000469423.1:n.74G>A
ENST00000493218.5:n.163G>A
ENST00000597692.1:c.311G>A
NM_000528.3:c.2752G>A	NP_000519.2:p.Glu918Lys
NM_001173498.1:c.2749G>A	NP_001166969.1:p.Glu917Lys
XM_005259913.1:c.2755G>A	XP_005259970.1:p.Glu919Lys
XM_011528017.1:c.1651G>A	XP_011526319.1:p.Glu551Lys
XM_005259913.2:c.2755G>A	XP_005259970.1:p.Glu919Lys
XM_024451518.1:c.1651G>A	XP_024307286.1:p.Glu551Lys
NM_000528.4:c.2752G>A MANE Select	NP_000519.2:p.Glu918Lys
NM_001173498.2:c.2749G>A	NP_001166969.1:p.Glu917Lys