Canonical Allele Identifier: CA2582722082

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663597-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663597C>A , CM000681.2:g.12663597C>A	GRCh38
NC_000019.9:g.12774411C>A , CM000681.1:g.12774411C>A	GRCh37
NC_000019.8:g.12635411C>A	NCBI36
NG_008318.1:g.8181G>T
NG_015814.1:g.1794C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.763+106G>T MANE Select	ENSP00000395473.2:n.763+106G>T
ENST00000221363.8:c.763+106G>T	ENSP00000221363.4:n.763+106G>T
ENST00000456935.6:c.763+106G>T	ENSP00000395473.2:n.763+106G>T
ENST00000466794.5:n.745+106G>T
ENST00000486847.2:c.466+106G>T	ENSP00000470174.1:n.466+106G>T
NM_000528.3:c.763+106G>T	NP_000519.2:n.763+106G>T
NM_001173498.1:c.763+106G>T	NP_001166969.1:n.763+106G>T
XM_005259913.1:c.763+106G>T	XP_005259970.1:n.763+106G>T
XM_005259913.2:c.763+106G>T	XP_005259970.1:n.763+106G>T
XM_024451518.1:c.-256+106G>T	XP_024307286.1:n.-256+106G>T
NM_000528.4:c.763+106G>T MANE Select	NP_000519.2:n.763+106G>T
NM_001173498.2:c.763+106G>T	NP_001166969.1:n.763+106G>T