Canonical Allele Identifier: CA404241152

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12759993G>C (hg19) ; chr19:g.12649179G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649179G>C , CM000681.2:g.12649179G>C	GRCh38
NC_000019.9:g.12759993G>C , CM000681.1:g.12759993G>C	GRCh37
NC_000019.8:g.12620993G>C	NCBI36
NG_008318.1:g.22599C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2393C>G MANE Select	ENSP00000395473.2:p.Ser798Cys
ENST00000221363.8:c.2390C>G	ENSP00000221363.4:p.Ser797Cys
ENST00000456935.6:c.2393C>G	ENSP00000395473.2:p.Ser798Cys
ENST00000466794.5:n.2983C>G
NM_000528.3:c.2393C>G	NP_000519.2:p.Ser798Cys
NM_001173498.1:c.2390C>G	NP_001166969.1:p.Ser797Cys
XM_005259913.1:c.2396C>G	XP_005259970.1:p.Ser799Cys
XM_011528017.1:c.1292C>G	XP_011526319.1:p.Ser431Cys
XM_005259913.2:c.2396C>G	XP_005259970.1:p.Ser799Cys
XM_024451518.1:c.1292C>G	XP_024307286.1:p.Ser431Cys
NM_000528.4:c.2393C>G MANE Select	NP_000519.2:p.Ser798Cys
NM_001173498.2:c.2390C>G	NP_001166969.1:p.Ser797Cys