Canonical Allele Identifier: CA2582722093

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663623-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663623A>G , CM000681.2:g.12663623A>G	GRCh38
NC_000019.9:g.12774437A>G , CM000681.1:g.12774437A>G	GRCh37
NC_000019.8:g.12635437A>G	NCBI36
NG_008318.1:g.8155T>C
NG_015814.1:g.1820A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.763+80T>C MANE Select	ENSP00000395473.2:n.763+80T>C
ENST00000221363.8:c.763+80T>C	ENSP00000221363.4:n.763+80T>C
ENST00000456935.6:c.763+80T>C	ENSP00000395473.2:n.763+80T>C
ENST00000466794.5:n.745+80T>C
ENST00000486847.2:c.466+80T>C	ENSP00000470174.1:n.466+80T>C
NM_000528.3:c.763+80T>C	NP_000519.2:n.763+80T>C
NM_001173498.1:c.763+80T>C	NP_001166969.1:n.763+80T>C
XM_005259913.1:c.763+80T>C	XP_005259970.1:n.763+80T>C
XM_005259913.2:c.763+80T>C	XP_005259970.1:n.763+80T>C
XM_024451518.1:c.-256+80T>C	XP_024307286.1:n.-256+80T>C
NM_000528.4:c.763+80T>C MANE Select	NP_000519.2:n.763+80T>C
NM_001173498.2:c.763+80T>C	NP_001166969.1:n.763+80T>C