Canonical Allele Identifier: CA404256278

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665405C>T , CM000681.2:g.12665405C>T	GRCh38
NC_000019.9:g.12776219C>T , CM000681.1:g.12776219C>T	GRCh37
NC_000019.8:g.12637219C>T	NCBI36
NG_008318.1:g.6373G>A
NG_015814.1:g.3602C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.383G>A MANE Select	NP_000519.2:p.Trp128Ter
ENST00000456935.7:c.383G>A MANE Select	ENSP00000395473.2:p.Trp128Ter
NM_000528.3:c.383G>A	NP_000519.2:p.Trp128Ter
NM_001173498.1:c.383G>A	NP_001166969.1:p.Trp128Ter
NM_001173498.2:c.383G>A	NP_001166969.1:p.Trp128Ter
ENST00000221363.8:c.383G>A	ENSP00000221363.4:p.Trp128Ter
ENST00000456935.6:c.383G>A	ENSP00000395473.2:p.Trp128Ter
ENST00000466794.5:n.365G>A
ENST00000486847.2:c.280G>A	ENSP00000470174.1:p.Gly94Ser
ENST00000596512.5:n.321G>A
ENST00000597961.1:c.374G>A	ENSP00000472710.1:p.Trp125Ter
ENST00000598876.1:c.410G>A	ENSP00000470533.1:p.Trp137Ter
ENST00000600281.1:n.424G>A
XM_005259913.1:c.383G>A	XP_005259970.1:p.Trp128Ter
XM_005259913.2:c.383G>A	XP_005259970.1:p.Trp128Ter
XM_024451518.1:c.-636G>A	XP_024307286.1:n.-636G>A