Canonical Allele Identifier: CA505770739

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758272A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647458A>G , CM000681.2:g.12647458A>G	GRCh38
NC_000019.9:g.12758272A>G , CM000681.1:g.12758272A>G	GRCh37
NC_000019.8:g.12619272A>G	NCBI36
NG_008318.1:g.24320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2805T>C MANE Select	ENSP00000395473.2:p.Val935=
ENST00000221363.8:c.2802T>C	ENSP00000221363.4:p.Val934=
ENST00000456935.6:c.2805T>C	ENSP00000395473.2:p.Val935=
ENST00000466794.5:n.3395T>C
ENST00000469423.1:n.127T>C
ENST00000493218.5:n.216T>C
ENST00000597692.1:c.364T>C
NM_000528.3:c.2805T>C	NP_000519.2:p.Val935=
NM_001173498.1:c.2802T>C	NP_001166969.1:p.Val934=
XM_005259913.1:c.2808T>C	XP_005259970.1:p.Val936=
XM_011528017.1:c.1704T>C	XP_011526319.1:p.Val568=
XM_005259913.2:c.2808T>C	XP_005259970.1:p.Val936=
XM_024451518.1:c.1704T>C	XP_024307286.1:p.Val568=
NM_000528.4:c.2805T>C MANE Select	NP_000519.2:p.Val935=
NM_001173498.2:c.2802T>C	NP_001166969.1:p.Val934=