Canonical Allele Identifier: CA2582722622

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665297-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665297C>T , CM000681.2:g.12665297C>T	GRCh38
NC_000019.9:g.12776111C>T , CM000681.1:g.12776111C>T	GRCh37
NC_000019.8:g.12637111C>T	NCBI36
NG_008318.1:g.6481G>A
NG_015814.1:g.3494C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.436+55G>A MANE Select	ENSP00000395473.2:n.436+55G>A
ENST00000221363.8:c.436+55G>A	ENSP00000221363.4:n.436+55G>A
ENST00000456935.6:c.436+55G>A	ENSP00000395473.2:n.436+55G>A
ENST00000466794.5:n.418+55G>A
ENST00000486847.2:c.333+55G>A	ENSP00000470174.1:n.333+55G>A
ENST00000596512.5:n.374+55G>A
ENST00000597961.1:c.427+55G>A	ENSP00000472710.1:n.427+55G>A
ENST00000598876.1:c.463+55G>A	ENSP00000470533.1:n.463+55G>A
ENST00000600281.1:n.532G>A
NM_000528.3:c.436+55G>A	NP_000519.2:n.436+55G>A
NM_001173498.1:c.436+55G>A	NP_001166969.1:n.436+55G>A
XM_005259913.1:c.436+55G>A	XP_005259970.1:n.436+55G>A
XM_005259913.2:c.436+55G>A	XP_005259970.1:n.436+55G>A
XM_024451518.1:c.-583+55G>A	XP_024307286.1:n.-583+55G>A
NM_000528.4:c.436+55G>A MANE Select	NP_000519.2:n.436+55G>A
NM_001173498.2:c.436+55G>A	NP_001166969.1:n.436+55G>A