Canonical Allele Identifier: CA505626276

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12664981-G-A
• MyVariant Identifiers: chr19:g.12775795G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664981G>A , CM000681.2:g.12664981G>A	GRCh38
NC_000019.9:g.12775795G>A , CM000681.1:g.12775795G>A	GRCh37
NC_000019.8:g.12636795G>A	NCBI36
NG_008318.1:g.6797C>T
NG_015814.1:g.3178G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.441C>T MANE Select	ENSP00000395473.2:p.Arg147=
ENST00000221363.8:c.441C>T	ENSP00000221363.4:p.Arg147=
ENST00000456935.6:c.441C>T	ENSP00000395473.2:p.Arg147=
ENST00000466794.5:n.423C>T
ENST00000486847.2:c.333+371C>T	ENSP00000470174.1:n.333+371C>T
ENST00000596512.5:n.379C>T
ENST00000597961.1:c.432C>T	ENSP00000472710.1:p.Arg144=
ENST00000598876.1:c.468C>T	ENSP00000470533.1:p.Arg156=
NM_000528.3:c.441C>T	NP_000519.2:p.Arg147=
NM_001173498.1:c.441C>T	NP_001166969.1:p.Arg147=
XM_005259913.1:c.441C>T	XP_005259970.1:p.Arg147=
XM_005259913.2:c.441C>T	XP_005259970.1:p.Arg147=
XM_024451518.1:c.-578C>T	XP_024307286.1:n.-578C>T
NM_000528.4:c.441C>T MANE Select	NP_000519.2:p.Arg147=
NM_001173498.2:c.441C>T	NP_001166969.1:p.Arg147=