Canonical Allele Identifier: CA2582722075

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663590-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663590T>C , CM000681.2:g.12663590T>C	GRCh38
NC_000019.9:g.12774404T>C , CM000681.1:g.12774404T>C	GRCh37
NC_000019.8:g.12635404T>C	NCBI36
NG_008318.1:g.8188A>G
NG_015814.1:g.1787T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.763+113A>G MANE Select	ENSP00000395473.2:n.763+113A>G
ENST00000221363.8:c.763+113A>G	ENSP00000221363.4:n.763+113A>G
ENST00000456935.6:c.763+113A>G	ENSP00000395473.2:n.763+113A>G
ENST00000466794.5:n.745+113A>G
ENST00000486847.2:c.466+113A>G	ENSP00000470174.1:n.466+113A>G
NM_000528.3:c.763+113A>G	NP_000519.2:n.763+113A>G
NM_001173498.1:c.763+113A>G	NP_001166969.1:n.763+113A>G
XM_005259913.1:c.763+113A>G	XP_005259970.1:n.763+113A>G
XM_005259913.2:c.763+113A>G	XP_005259970.1:n.763+113A>G
XM_024451518.1:c.-256+113A>G	XP_024307286.1:n.-256+113A>G
NM_000528.4:c.763+113A>G MANE Select	NP_000519.2:n.763+113A>G
NM_001173498.2:c.763+113A>G	NP_001166969.1:n.763+113A>G