Canonical Allele Identifier: CA505770767

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758284C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647470C>T , CM000681.2:g.12647470C>T	GRCh38
NC_000019.9:g.12758284C>T , CM000681.1:g.12758284C>T	GRCh37
NC_000019.8:g.12619284C>T	NCBI36
NG_008318.1:g.24308G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2793G>A MANE Select	ENSP00000395473.2:p.Leu931=
ENST00000221363.8:c.2790G>A	ENSP00000221363.4:p.Leu930=
ENST00000456935.6:c.2793G>A	ENSP00000395473.2:p.Leu931=
ENST00000466794.5:n.3383G>A
ENST00000469423.1:n.115G>A
ENST00000493218.5:n.204G>A
ENST00000597692.1:c.352G>A
NM_000528.3:c.2793G>A	NP_000519.2:p.Leu931=
NM_001173498.1:c.2790G>A	NP_001166969.1:p.Leu930=
XM_005259913.1:c.2796G>A	XP_005259970.1:p.Leu932=
XM_011528017.1:c.1692G>A	XP_011526319.1:p.Leu564=
XM_005259913.2:c.2796G>A	XP_005259970.1:p.Leu932=
XM_024451518.1:c.1692G>A	XP_024307286.1:p.Leu564=
NM_000528.4:c.2793G>A MANE Select	NP_000519.2:p.Leu931=
NM_001173498.2:c.2790G>A	NP_001166969.1:p.Leu930=