Canonical Allele Identifier: CA404254879

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12664883-T-C
• MyVariant Identifiers: chr19:g.12775697T>C (hg19) ; chr19:g.12664883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664883T>C , CM000681.2:g.12664883T>C	GRCh38
NC_000019.9:g.12775697T>C , CM000681.1:g.12775697T>C	GRCh37
NC_000019.8:g.12636697T>C	NCBI36
NG_008318.1:g.6895A>G
NG_015814.1:g.3080T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.539A>G MANE Select	ENSP00000395473.2:p.Glu180Gly
ENST00000221363.8:c.539A>G	ENSP00000221363.4:p.Glu180Gly
ENST00000456935.6:c.539A>G	ENSP00000395473.2:p.Glu180Gly
ENST00000466794.5:n.521A>G
ENST00000486847.2:c.333+469A>G	ENSP00000470174.1:n.333+469A>G
ENST00000596512.5:n.477A>G
ENST00000597961.1:c.530A>G	ENSP00000472710.1:p.Glu177Gly
NM_000528.3:c.539A>G	NP_000519.2:p.Glu180Gly
NM_001173498.1:c.539A>G	NP_001166969.1:p.Glu180Gly
XM_005259913.1:c.539A>G	XP_005259970.1:p.Glu180Gly
XM_005259913.2:c.539A>G	XP_005259970.1:p.Glu180Gly
XM_024451518.1:c.-480A>G	XP_024307286.1:n.-480A>G
NM_000528.4:c.539A>G MANE Select	NP_000519.2:p.Glu180Gly
NM_001173498.2:c.539A>G	NP_001166969.1:p.Glu180Gly