Canonical Allele Identifier: CA404248313

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769135A>C (hg19) ; chr19:g.12658321A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658321A>C , CM000681.2:g.12658321A>C	GRCh38
NC_000019.9:g.12769135A>C , CM000681.1:g.12769135A>C	GRCh37
NC_000019.8:g.12630135A>C	NCBI36
NG_008318.1:g.13457T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1133T>G MANE Select	ENSP00000395473.2:p.Phe378Cys
ENST00000221363.8:c.1130T>G	ENSP00000221363.4:p.Phe377Cys
ENST00000456935.6:c.1133T>G	ENSP00000395473.2:p.Phe378Cys
ENST00000465830.1:n.297T>G
ENST00000466794.5:n.1032T>G
ENST00000495617.1:n.280+410T>G
NM_000528.3:c.1133T>G	NP_000519.2:p.Phe378Cys
NM_001173498.1:c.1130T>G	NP_001166969.1:p.Phe377Cys
XM_005259913.1:c.1136T>G	XP_005259970.1:p.Phe379Cys
XM_011528017.1:c.32T>G	XP_011526319.1:p.Phe11Cys
XM_005259913.2:c.1136T>G	XP_005259970.1:p.Phe379Cys
XM_024451518.1:c.32T>G	XP_024307286.1:p.Phe11Cys
NM_000528.4:c.1133T>G MANE Select	NP_000519.2:p.Phe378Cys
NM_001173498.2:c.1130T>G	NP_001166969.1:p.Phe377Cys