Canonical Allele Identifier: CA404256307

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776221C>A (hg19) ; chr19:g.12665407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665407C>A , CM000681.2:g.12665407C>A	GRCh38
NC_000019.9:g.12776221C>A , CM000681.1:g.12776221C>A	GRCh37
NC_000019.8:g.12637221C>A	NCBI36
NG_008318.1:g.6371G>T
NG_015814.1:g.3604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.381G>T MANE Select	ENSP00000395473.2:p.Trp127Cys
ENST00000221363.8:c.381G>T	ENSP00000221363.4:p.Trp127Cys
ENST00000456935.6:c.381G>T	ENSP00000395473.2:p.Trp127Cys
ENST00000466794.5:n.363G>T
ENST00000486847.2:c.278G>T	ENSP00000470174.1:p.Gly93Val
ENST00000596512.5:n.319G>T
ENST00000597961.1:c.372G>T	ENSP00000472710.1:p.Trp124Cys
ENST00000598876.1:c.408G>T	ENSP00000470533.1:p.Trp136Cys
ENST00000600281.1:n.422G>T
NM_000528.3:c.381G>T	NP_000519.2:p.Trp127Cys
NM_001173498.1:c.381G>T	NP_001166969.1:p.Trp127Cys
XM_005259913.1:c.381G>T	XP_005259970.1:p.Trp127Cys
XM_005259913.2:c.381G>T	XP_005259970.1:p.Trp127Cys
XM_024451518.1:c.-638G>T	XP_024307286.1:n.-638G>T
NM_000528.4:c.381G>T MANE Select	NP_000519.2:p.Trp127Cys
NM_001173498.2:c.381G>T	NP_001166969.1:p.Trp127Cys