Canonical Allele Identifier: CA505624935

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1616940
• ClinVar RCV Id: RCV002076231
• dbSNP Id: rs1167317443
• gnomAD v4: 19-12656970-C-G
• MyVariant Identifiers: chr19:g.12767784C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656970C>G , CM000681.2:g.12656970C>G	GRCh38
NC_000019.9:g.12767784C>G , CM000681.1:g.12767784C>G	GRCh37
NC_000019.8:g.12628784C>G	NCBI36
NG_008318.1:g.14808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1506G>C MANE Select	ENSP00000395473.2:p.Pro502=
ENST00000221363.8:c.1503G>C	ENSP00000221363.4:p.Pro501=
ENST00000433513.5:n.112G>C
ENST00000456935.6:c.1506G>C	ENSP00000395473.2:p.Pro502=
ENST00000466794.5:n.1405G>C
ENST00000495617.1:n.682G>C
ENST00000593686.1:c.116G>C
ENST00000595880.5:n.103G>C
NM_000528.3:c.1506G>C	NP_000519.2:p.Pro502=
NM_001173498.1:c.1503G>C	NP_001166969.1:p.Pro501=
XM_005259913.1:c.1509G>C	XP_005259970.1:p.Pro503=
XM_011528017.1:c.405G>C	XP_011526319.1:p.Pro135=
XM_005259913.2:c.1509G>C	XP_005259970.1:p.Pro503=
XM_024451518.1:c.405G>C	XP_024307286.1:p.Pro135=
NM_000528.4:c.1506G>C MANE Select	NP_000519.2:p.Pro502=
NM_001173498.2:c.1503G>C	NP_001166969.1:p.Pro501=