Canonical Allele Identifier: CA505625012

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1607110
• ClinVar RCV Id: RCV002139659
• dbSNP Id: rs1485268011
• MyVariant Identifiers: chr19:g.12768293C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657479C>G , CM000681.2:g.12657479C>G	GRCh38
NC_000019.9:g.12768293C>G , CM000681.1:g.12768293C>G	GRCh37
NC_000019.8:g.12629293C>G	NCBI36
NG_008318.1:g.14299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1386G>C MANE Select	ENSP00000395473.2:p.Ala462=
ENST00000221363.8:c.1383G>C	ENSP00000221363.4:p.Ala461=
ENST00000456935.6:c.1386G>C	ENSP00000395473.2:p.Ala462=
ENST00000465830.1:n.550G>C
ENST00000466794.5:n.1285G>C
ENST00000495617.1:n.562G>C
NM_000528.3:c.1386G>C	NP_000519.2:p.Ala462=
NM_001173498.1:c.1383G>C	NP_001166969.1:p.Ala461=
XM_005259913.1:c.1389G>C	XP_005259970.1:p.Ala463=
XM_011528017.1:c.285G>C	XP_011526319.1:p.Ala95=
XM_005259913.2:c.1389G>C	XP_005259970.1:p.Ala463=
XM_024451518.1:c.285G>C	XP_024307286.1:p.Ala95=
NM_000528.4:c.1386G>C MANE Select	NP_000519.2:p.Ala462=
NM_001173498.2:c.1383G>C	NP_001166969.1:p.Ala461=