Canonical Allele Identifier: CA404244875

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1234494689
• MyVariant Identifiers: chr19:g.12766603A>C (hg19) ; chr19:g.12655789A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655789A>C , CM000681.2:g.12655789A>C	GRCh38
NC_000019.9:g.12766603A>C , CM000681.1:g.12766603A>C	GRCh37
NC_000019.8:g.12627603A>C	NCBI36
NG_008318.1:g.15989T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1735T>G MANE Select	ENSP00000395473.2:p.Ser579Ala
ENST00000221363.8:c.1732T>G	ENSP00000221363.4:p.Ser578Ala
ENST00000433513.5:n.341T>G
ENST00000456935.6:c.1735T>G	ENSP00000395473.2:p.Ser579Ala
ENST00000466794.5:n.2325T>G
ENST00000593686.1:c.328T>G
ENST00000595880.5:n.332T>G
ENST00000596591.1:c.99T>G
NM_000528.3:c.1735T>G	NP_000519.2:p.Ser579Ala
NM_001173498.1:c.1732T>G	NP_001166969.1:p.Ser578Ala
XM_005259913.1:c.1738T>G	XP_005259970.1:p.Ser580Ala
XM_011528017.1:c.634T>G	XP_011526319.1:p.Ser212Ala
XM_005259913.2:c.1738T>G	XP_005259970.1:p.Ser580Ala
XM_024451518.1:c.634T>G	XP_024307286.1:p.Ser212Ala
NM_000528.4:c.1735T>G MANE Select	NP_000519.2:p.Ser579Ala
NM_001173498.2:c.1732T>G	NP_001166969.1:p.Ser578Ala