Canonical Allele Identifier: CA505770697

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758296G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647482G>C , CM000681.2:g.12647482G>C	GRCh38
NC_000019.9:g.12758296G>C , CM000681.1:g.12758296G>C	GRCh37
NC_000019.8:g.12619296G>C	NCBI36
NG_008318.1:g.24296C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2781C>G MANE Select	ENSP00000395473.2:p.Ser927=
ENST00000221363.8:c.2778C>G	ENSP00000221363.4:p.Ser926=
ENST00000456935.6:c.2781C>G	ENSP00000395473.2:p.Ser927=
ENST00000466794.5:n.3371C>G
ENST00000469423.1:n.103C>G
ENST00000493218.5:n.192C>G
ENST00000597692.1:c.340C>G
NM_000528.3:c.2781C>G	NP_000519.2:p.Ser927=
NM_001173498.1:c.2778C>G	NP_001166969.1:p.Ser926=
XM_005259913.1:c.2784C>G	XP_005259970.1:p.Ser928=
XM_011528017.1:c.1680C>G	XP_011526319.1:p.Ser560=
XM_005259913.2:c.2784C>G	XP_005259970.1:p.Ser928=
XM_024451518.1:c.1680C>G	XP_024307286.1:p.Ser560=
NM_000528.4:c.2781C>G MANE Select	NP_000519.2:p.Ser927=
NM_001173498.2:c.2778C>G	NP_001166969.1:p.Ser926=