Canonical Allele Identifier: CA2739276552

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2832502
• ClinVar RCV Id: RCV003602110

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665688C>A , CM000681.2:g.12665688C>A	GRCh38
NC_000019.9:g.12776502C>A , CM000681.1:g.12776502C>A	GRCh37
NC_000019.8:g.12637502C>A	NCBI36
NG_008318.1:g.6090G>T
NG_015814.1:g.3885C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.262+15G>T MANE Select	ENSP00000395473.2:n.262+15G>T
ENST00000221363.8:c.262+15G>T	ENSP00000221363.4:n.262+15G>T
ENST00000456935.6:c.262+15G>T	ENSP00000395473.2:n.262+15G>T
ENST00000466794.5:n.244+15G>T
ENST00000486847.2:c.160-163G>T	ENSP00000470174.1:n.160-163G>T
ENST00000596512.5:n.201-163G>T
ENST00000597961.1:c.253+15G>T	ENSP00000472710.1:n.253+15G>T
ENST00000598876.1:c.289+15G>T	ENSP00000470533.1:n.289+15G>T
ENST00000600281.1:n.303+15G>T
NM_000528.3:c.262+15G>T	NP_000519.2:n.262+15G>T
NM_001173498.1:c.262+15G>T	NP_001166969.1:n.262+15G>T
XM_005259913.1:c.262+15G>T	XP_005259970.1:n.262+15G>T
XM_005259913.2:c.262+15G>T	XP_005259970.1:n.262+15G>T
XM_024451518.1:c.-757+15G>T	XP_024307286.1:n.-757+15G>T
NM_000528.4:c.262+15G>T MANE Select	NP_000519.2:n.262+15G>T
NM_001173498.2:c.262+15G>T	NP_001166969.1:n.262+15G>T