Canonical Allele Identifier: CA404258692

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776609G>A (hg19) ; chr19:g.12665795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665795G>A , CM000681.2:g.12665795G>A	GRCh38
NC_000019.9:g.12776609G>A , CM000681.1:g.12776609G>A	GRCh37
NC_000019.8:g.12637609G>A	NCBI36
NG_008318.1:g.5983C>T
NG_015814.1:g.3992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.170C>T MANE Select	ENSP00000395473.2:p.Thr57Ile
ENST00000221363.8:c.170C>T	ENSP00000221363.4:p.Thr57Ile
ENST00000456935.6:c.170C>T	ENSP00000395473.2:p.Thr57Ile
ENST00000466794.5:n.152C>T
ENST00000486847.2:c.160-270C>T	ENSP00000470174.1:n.160-270C>T
ENST00000596512.5:n.201-270C>T
ENST00000597961.1:c.161C>T	ENSP00000472710.1:p.Thr54Ile
ENST00000598876.1:c.197C>T	ENSP00000470533.1:p.Thr66Ile
ENST00000600281.1:n.211C>T
NM_000528.3:c.170C>T	NP_000519.2:p.Thr57Ile
NM_001173498.1:c.170C>T	NP_001166969.1:p.Thr57Ile
XM_005259913.1:c.170C>T	XP_005259970.1:p.Thr57Ile
XM_005259913.2:c.170C>T	XP_005259970.1:p.Thr57Ile
XM_024451518.1:c.-849C>T	XP_024307286.1:n.-849C>T
NM_000528.4:c.170C>T MANE Select	NP_000519.2:p.Thr57Ile
NM_001173498.2:c.170C>T	NP_001166969.1:p.Thr57Ile