Canonical Allele Identifier: CA2576635219

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663605-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663605A>C , CM000681.2:g.12663605A>C	GRCh38
NC_000019.9:g.12774419A>C , CM000681.1:g.12774419A>C	GRCh37
NC_000019.8:g.12635419A>C	NCBI36
NG_008318.1:g.8173T>G
NG_015814.1:g.1802A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.763+98T>G MANE Select	ENSP00000395473.2:n.763+98T>G
ENST00000221363.8:c.763+98T>G	ENSP00000221363.4:n.763+98T>G
ENST00000456935.6:c.763+98T>G	ENSP00000395473.2:n.763+98T>G
ENST00000466794.5:n.745+98T>G
ENST00000486847.2:c.466+98T>G	ENSP00000470174.1:n.466+98T>G
NM_000528.3:c.763+98T>G	NP_000519.2:n.763+98T>G
NM_001173498.1:c.763+98T>G	NP_001166969.1:n.763+98T>G
XM_005259913.1:c.763+98T>G	XP_005259970.1:n.763+98T>G
XM_005259913.2:c.763+98T>G	XP_005259970.1:n.763+98T>G
XM_024451518.1:c.-256+98T>G	XP_024307286.1:n.-256+98T>G
NM_000528.4:c.763+98T>G MANE Select	NP_000519.2:n.763+98T>G
NM_001173498.2:c.763+98T>G	NP_001166969.1:n.763+98T>G