Canonical Allele Identifier: CA404248745

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1516039
• ClinVar RCV Id: RCV002023650
• dbSNP Id: rs2145262130
• MyVariant Identifiers: chr19:g.12769285G>C (hg19) ; chr19:g.12658471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658471G>C , CM000681.2:g.12658471G>C	GRCh38
NC_000019.9:g.12769285G>C , CM000681.1:g.12769285G>C	GRCh37
NC_000019.8:g.12630285G>C	NCBI36
NG_008318.1:g.13307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1066C>G MANE Select	ENSP00000395473.2:p.Pro356Ala
ENST00000221363.8:c.1063C>G	ENSP00000221363.4:p.Pro355Ala
ENST00000456935.6:c.1066C>G	ENSP00000395473.2:p.Pro356Ala
ENST00000465830.1:n.147C>G
ENST00000466794.5:n.1009-127C>G
ENST00000495617.1:n.280+260C>G
NM_000528.3:c.1066C>G	NP_000519.2:p.Pro356Ala
NM_001173498.1:c.1063C>G	NP_001166969.1:p.Pro355Ala
XM_005259913.1:c.1069C>G	XP_005259970.1:p.Pro357Ala
XM_011528017.1:c.9-127C>G	XP_011526319.1:n.9-127C>G
XM_005259913.2:c.1069C>G	XP_005259970.1:p.Pro357Ala
XM_024451518.1:c.9-127C>G	XP_024307286.1:n.9-127C>G
NM_000528.4:c.1066C>G MANE Select	NP_000519.2:p.Pro356Ala
NM_001173498.2:c.1063C>G	NP_001166969.1:p.Pro355Ala