Canonical Allele Identifier: CA505626675

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2709604
• ClinVar RCV Id: RCV003498960
• MyVariant Identifiers: chr19:g.12776560A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665746A>G , CM000681.2:g.12665746A>G	GRCh38
NC_000019.9:g.12776560A>G , CM000681.1:g.12776560A>G	GRCh37
NC_000019.8:g.12637560A>G	NCBI36
NG_008318.1:g.6032T>C
NG_015814.1:g.3943A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.219T>C MANE Select	ENSP00000395473.2:p.Asp73=
ENST00000221363.8:c.219T>C	ENSP00000221363.4:p.Asp73=
ENST00000456935.6:c.219T>C	ENSP00000395473.2:p.Asp73=
ENST00000466794.5:n.201T>C
ENST00000486847.2:c.160-221T>C	ENSP00000470174.1:n.160-221T>C
ENST00000596512.5:n.201-221T>C
ENST00000597961.1:c.210T>C	ENSP00000472710.1:p.Asp70=
ENST00000598876.1:c.246T>C	ENSP00000470533.1:p.Asp82=
ENST00000600281.1:n.260T>C
NM_000528.3:c.219T>C	NP_000519.2:p.Asp73=
NM_001173498.1:c.219T>C	NP_001166969.1:p.Asp73=
XM_005259913.1:c.219T>C	XP_005259970.1:p.Asp73=
XM_005259913.2:c.219T>C	XP_005259970.1:p.Asp73=
XM_024451518.1:c.-800T>C	XP_024307286.1:n.-800T>C
NM_000528.4:c.219T>C MANE Select	NP_000519.2:p.Asp73=
NM_001173498.2:c.219T>C	NP_001166969.1:p.Asp73=