Canonical Allele Identifier: CA2582722619

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665289-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665289C>A , CM000681.2:g.12665289C>A	GRCh38
NC_000019.9:g.12776103C>A , CM000681.1:g.12776103C>A	GRCh37
NC_000019.8:g.12637103C>A	NCBI36
NG_008318.1:g.6489G>T
NG_015814.1:g.3486C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.436+63G>T MANE Select	ENSP00000395473.2:n.436+63G>T
ENST00000221363.8:c.436+63G>T	ENSP00000221363.4:n.436+63G>T
ENST00000456935.6:c.436+63G>T	ENSP00000395473.2:n.436+63G>T
ENST00000466794.5:n.418+63G>T
ENST00000486847.2:c.333+63G>T	ENSP00000470174.1:n.333+63G>T
ENST00000596512.5:n.374+63G>T
ENST00000597961.1:c.427+63G>T	ENSP00000472710.1:n.427+63G>T
ENST00000598876.1:c.463+63G>T	ENSP00000470533.1:n.463+63G>T
ENST00000600281.1:n.540G>T
NM_000528.3:c.436+63G>T	NP_000519.2:n.436+63G>T
NM_001173498.1:c.436+63G>T	NP_001166969.1:n.436+63G>T
XM_005259913.1:c.436+63G>T	XP_005259970.1:n.436+63G>T
XM_005259913.2:c.436+63G>T	XP_005259970.1:n.436+63G>T
XM_024451518.1:c.-583+63G>T	XP_024307286.1:n.-583+63G>T
NM_000528.4:c.436+63G>T MANE Select	NP_000519.2:n.436+63G>T
NM_001173498.2:c.436+63G>T	NP_001166969.1:n.436+63G>T