Canonical Allele Identifier: CA2323498622

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023715322

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647403del , CM000681.2:g.12647403del	GRCh38
NC_000019.9:g.12758217del , CM000681.1:g.12758217del	GRCh37
NC_000019.8:g.12619217del	NCBI36
NG_008318.1:g.24376del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2820+41del MANE Select	ENSP00000395473.2:n.2820+41del
ENST00000221363.8:c.2817+41del	ENSP00000221363.4:n.2817+41del
ENST00000456935.6:c.2820+41del	ENSP00000395473.2:n.2820+41del
ENST00000466794.5:n.3410+41del
ENST00000469423.1:n.183del
ENST00000493218.5:n.231+41del
ENST00000597692.1:c.379+41del
NM_000528.3:c.2820+41del	NP_000519.2:n.2820+41del
NM_001173498.1:c.2817+41del	NP_001166969.1:n.2817+41del
XM_005259913.1:c.2823+41del	XP_005259970.1:n.2823+41del
XM_011528017.1:c.1719+41del	XP_011526319.1:n.1719+41del
XM_005259913.2:c.2823+41del	XP_005259970.1:n.2823+41del
XM_024451518.1:c.1719+41del	XP_024307286.1:n.1719+41del
NM_000528.4:c.2820+41del MANE Select	NP_000519.2:n.2820+41del
NM_001173498.2:c.2817+41del	NP_001166969.1:n.2817+41del