Canonical Allele Identifier: CA505625677

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774524G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663710G>A , CM000681.2:g.12663710G>A	GRCh38
NC_000019.9:g.12774524G>A , CM000681.1:g.12774524G>A	GRCh37
NC_000019.8:g.12635524G>A	NCBI36
NG_008318.1:g.8068C>T
NG_015814.1:g.1907G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.756C>T MANE Select	ENSP00000395473.2:p.Leu252=
ENST00000221363.8:c.756C>T	ENSP00000221363.4:p.Leu252=
ENST00000456935.6:c.756C>T	ENSP00000395473.2:p.Leu252=
ENST00000466794.5:n.738C>T
ENST00000486847.2:c.459C>T	ENSP00000470174.1:p.Leu153=
NM_000528.3:c.756C>T	NP_000519.2:p.Leu252=
NM_001173498.1:c.756C>T	NP_001166969.1:p.Leu252=
XM_005259913.1:c.756C>T	XP_005259970.1:p.Leu252=
XM_005259913.2:c.756C>T	XP_005259970.1:p.Leu252=
XM_024451518.1:c.-263C>T	XP_024307286.1:n.-263C>T
NM_000528.4:c.756C>T MANE Select	NP_000519.2:p.Leu252=
NM_001173498.2:c.756C>T	NP_001166969.1:p.Leu252=