Canonical Allele Identifier: CA2582722682

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665647-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665647A>G , CM000681.2:g.12665647A>G	GRCh38
NC_000019.9:g.12776461A>G , CM000681.1:g.12776461A>G	GRCh37
NC_000019.8:g.12637461A>G	NCBI36
NG_008318.1:g.6131T>C
NG_015814.1:g.3844A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.262+56T>C MANE Select	ENSP00000395473.2:n.262+56T>C
ENST00000221363.8:c.262+56T>C	ENSP00000221363.4:n.262+56T>C
ENST00000456935.6:c.262+56T>C	ENSP00000395473.2:n.262+56T>C
ENST00000466794.5:n.244+56T>C
ENST00000486847.2:c.160-122T>C	ENSP00000470174.1:n.160-122T>C
ENST00000596512.5:n.201-122T>C
ENST00000597961.1:c.253+56T>C	ENSP00000472710.1:n.253+56T>C
ENST00000598876.1:c.289+56T>C	ENSP00000470533.1:n.289+56T>C
ENST00000600281.1:n.303+56T>C
NM_000528.3:c.262+56T>C	NP_000519.2:n.262+56T>C
NM_001173498.1:c.262+56T>C	NP_001166969.1:n.262+56T>C
XM_005259913.1:c.262+56T>C	XP_005259970.1:n.262+56T>C
XM_005259913.2:c.262+56T>C	XP_005259970.1:n.262+56T>C
XM_024451518.1:c.-757+56T>C	XP_024307286.1:n.-757+56T>C
NM_000528.4:c.262+56T>C MANE Select	NP_000519.2:n.262+56T>C
NM_001173498.2:c.262+56T>C	NP_001166969.1:n.262+56T>C