Canonical Allele Identifier: CA2582722677

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665643-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665643A>C , CM000681.2:g.12665643A>C	GRCh38
NC_000019.9:g.12776457A>C , CM000681.1:g.12776457A>C	GRCh37
NC_000019.8:g.12637457A>C	NCBI36
NG_008318.1:g.6135T>G
NG_015814.1:g.3840A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.262+60T>G MANE Select	ENSP00000395473.2:n.262+60T>G
ENST00000221363.8:c.262+60T>G	ENSP00000221363.4:n.262+60T>G
ENST00000456935.6:c.262+60T>G	ENSP00000395473.2:n.262+60T>G
ENST00000466794.5:n.244+60T>G
ENST00000486847.2:c.160-118T>G	ENSP00000470174.1:n.160-118T>G
ENST00000596512.5:n.201-118T>G
ENST00000597961.1:c.253+60T>G	ENSP00000472710.1:n.253+60T>G
ENST00000598876.1:c.289+60T>G	ENSP00000470533.1:n.289+60T>G
ENST00000600281.1:n.303+60T>G
NM_000528.3:c.262+60T>G	NP_000519.2:n.262+60T>G
NM_001173498.1:c.262+60T>G	NP_001166969.1:n.262+60T>G
XM_005259913.1:c.262+60T>G	XP_005259970.1:n.262+60T>G
XM_005259913.2:c.262+60T>G	XP_005259970.1:n.262+60T>G
XM_024451518.1:c.-757+60T>G	XP_024307286.1:n.-757+60T>G
NM_000528.4:c.262+60T>G MANE Select	NP_000519.2:n.262+60T>G
NM_001173498.2:c.262+60T>G	NP_001166969.1:n.262+60T>G