Canonical Allele Identifier: CA2582719241

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12655637-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655637C>T , CM000681.2:g.12655637C>T	GRCh38
NC_000019.9:g.12766451C>T , CM000681.1:g.12766451C>T	GRCh37
NC_000019.8:g.12627451C>T	NCBI36
NG_008318.1:g.16141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1830+57G>A MANE Select	ENSP00000395473.2:n.1830+57G>A
ENST00000221363.8:c.1827+57G>A	ENSP00000221363.4:n.1827+57G>A
ENST00000433513.5:n.436+57G>A
ENST00000456935.6:c.1830+57G>A	ENSP00000395473.2:n.1830+57G>A
ENST00000466794.5:n.2420+57G>A
ENST00000593686.1:c.423+57G>A
ENST00000595880.5:n.427+57G>A
ENST00000596591.1:c.194+57G>A
NM_000528.3:c.1830+57G>A	NP_000519.2:n.1830+57G>A
NM_001173498.1:c.1827+57G>A	NP_001166969.1:n.1827+57G>A
XM_005259913.1:c.1833+57G>A	XP_005259970.1:n.1833+57G>A
XM_011528017.1:c.729+57G>A	XP_011526319.1:n.729+57G>A
XM_005259913.2:c.1833+57G>A	XP_005259970.1:n.1833+57G>A
XM_024451518.1:c.729+57G>A	XP_024307286.1:n.729+57G>A
NM_000528.4:c.1830+57G>A MANE Select	NP_000519.2:n.1830+57G>A
NM_001173498.2:c.1827+57G>A	NP_001166969.1:n.1827+57G>A