Canonical Allele Identifier: CA404252916

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663785-C-G
• MyVariant Identifiers: chr19:g.12774599C>G (hg19) ; chr19:g.12663785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663785C>G , CM000681.2:g.12663785C>G	GRCh38
NC_000019.9:g.12774599C>G , CM000681.1:g.12774599C>G	GRCh37
NC_000019.8:g.12635599C>G	NCBI36
NG_008318.1:g.7993G>C
NG_015814.1:g.1982C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.681G>C MANE Select	ENSP00000395473.2:p.Trp227Cys
ENST00000221363.8:c.681G>C	ENSP00000221363.4:p.Trp227Cys
ENST00000456935.6:c.681G>C	ENSP00000395473.2:p.Trp227Cys
ENST00000466794.5:n.663G>C
ENST00000486847.2:c.384G>C	ENSP00000470174.1:p.Trp128Cys
NM_000528.3:c.681G>C	NP_000519.2:p.Trp227Cys
NM_001173498.1:c.681G>C	NP_001166969.1:p.Trp227Cys
XM_005259913.1:c.681G>C	XP_005259970.1:p.Trp227Cys
XM_005259913.2:c.681G>C	XP_005259970.1:p.Trp227Cys
XM_024451518.1:c.-338G>C	XP_024307286.1:n.-338G>C
NM_000528.4:c.681G>C MANE Select	NP_000519.2:p.Trp227Cys
NM_001173498.2:c.681G>C	NP_001166969.1:p.Trp227Cys