Canonical Allele Identifier: CA404237591

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758151T>A (hg19) ; chr19:g.12647337T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647337T>A , CM000681.2:g.12647337T>A	GRCh38
NC_000019.9:g.12758151T>A , CM000681.1:g.12758151T>A	GRCh37
NC_000019.8:g.12619151T>A	NCBI36
NG_008318.1:g.24441A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2821-2A>T MANE Select	ENSP00000395473.2:n.2821-2A>T
ENST00000221363.8:c.2818-2A>T	ENSP00000221363.4:n.2818-2A>T
ENST00000456935.6:c.2821-2A>T	ENSP00000395473.2:n.2821-2A>T
ENST00000466794.5:n.3411-2A>T
ENST00000469423.1:n.248A>T
ENST00000493218.5:n.232-2A>T
ENST00000597692.1:c.380-2A>T
NM_000528.3:c.2821-2A>T	NP_000519.2:n.2821-2A>T
NM_001173498.1:c.2818-2A>T	NP_001166969.1:n.2818-2A>T
XM_005259913.1:c.2824-2A>T	XP_005259970.1:n.2824-2A>T
XM_011528017.1:c.1720-2A>T	XP_011526319.1:n.1720-2A>T
XM_005259913.2:c.2824-2A>T	XP_005259970.1:n.2824-2A>T
XM_024451518.1:c.1720-2A>T	XP_024307286.1:n.1720-2A>T
NM_000528.4:c.2821-2A>T MANE Select	NP_000519.2:n.2821-2A>T
NM_001173498.2:c.2818-2A>T	NP_001166969.1:n.2818-2A>T