Canonical Allele Identifier: CA404237535

Gene: MAN2B1

Linked Data

• COSMIC: COSM4817252
• MyVariant Identifiers: chr19:g.12758139G>C (hg19) ; chr19:g.12647325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647325G>C , CM000681.2:g.12647325G>C	GRCh38
NC_000019.9:g.12758139G>C , CM000681.1:g.12758139G>C	GRCh37
NC_000019.8:g.12619139G>C	NCBI36
NG_008318.1:g.24453C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2831C>G MANE Select	ENSP00000395473.2:p.Ser944Cys
ENST00000221363.8:c.2828C>G	ENSP00000221363.4:p.Ser943Cys
ENST00000456935.6:c.2831C>G	ENSP00000395473.2:p.Ser944Cys
ENST00000466794.5:n.3421C>G
ENST00000469423.1:n.260C>G
ENST00000493218.5:n.242C>G
ENST00000597692.1:c.390C>G
NM_000528.3:c.2831C>G	NP_000519.2:p.Ser944Cys
NM_001173498.1:c.2828C>G	NP_001166969.1:p.Ser943Cys
XM_005259913.1:c.2834C>G	XP_005259970.1:p.Ser945Cys
XM_011528017.1:c.1730C>G	XP_011526319.1:p.Ser577Cys
XM_005259913.2:c.2834C>G	XP_005259970.1:p.Ser945Cys
XM_024451518.1:c.1730C>G	XP_024307286.1:p.Ser577Cys
NM_000528.4:c.2831C>G MANE Select	NP_000519.2:p.Ser944Cys
NM_001173498.2:c.2828C>G	NP_001166969.1:p.Ser943Cys