Canonical Allele Identifier: CA404237747

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1599338232
• MyVariant Identifiers: chr19:g.12758287G>T (hg19) ; chr19:g.12647473G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647473G>T , CM000681.2:g.12647473G>T	GRCh38
NC_000019.9:g.12758287G>T , CM000681.1:g.12758287G>T	GRCh37
NC_000019.8:g.12619287G>T	NCBI36
NG_008318.1:g.24305C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2790C>A MANE Select	ENSP00000395473.2:p.Asn930Lys
ENST00000221363.8:c.2787C>A	ENSP00000221363.4:p.Asn929Lys
ENST00000456935.6:c.2790C>A	ENSP00000395473.2:p.Asn930Lys
ENST00000466794.5:n.3380C>A
ENST00000469423.1:n.112C>A
ENST00000493218.5:n.201C>A
ENST00000597692.1:c.349C>A
NM_000528.3:c.2790C>A	NP_000519.2:p.Asn930Lys
NM_001173498.1:c.2787C>A	NP_001166969.1:p.Asn929Lys
XM_005259913.1:c.2793C>A	XP_005259970.1:p.Asn931Lys
XM_011528017.1:c.1689C>A	XP_011526319.1:p.Asn563Lys
XM_005259913.2:c.2793C>A	XP_005259970.1:p.Asn931Lys
XM_024451518.1:c.1689C>A	XP_024307286.1:p.Asn563Lys
NM_000528.4:c.2790C>A MANE Select	NP_000519.2:p.Asn930Lys
NM_001173498.2:c.2787C>A	NP_001166969.1:p.Asn929Lys