Canonical Allele Identifier: CA783384461

Gene: MAN2B1

Linked Data

• dbSNP Id: rs759163329
• gnomAD v4: 19-12647604-GGAGA-G
• MyVariant Identifiers: chr19:g.12758419_12758422del (hg19) ; chr19:g.12647605_12647608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647608_12647611del , CM000681.2:g.12647608_12647611del	GRCh38
NC_000019.9:g.12758422_12758425del , CM000681.1:g.12758422_12758425del	GRCh37
NC_000019.8:g.12619422_12619425del	NCBI36
NG_008318.1:g.24170_24173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-10_2665-7del MANE Select	ENSP00000395473.2:n.2665-10_2665-7del
ENST00000221363.8:c.2662-10_2662-7del	ENSP00000221363.4:n.2662-10_2662-7del
ENST00000456935.6:c.2665-10_2665-7del	ENSP00000395473.2:n.2665-10_2665-7del
ENST00000466794.5:n.3255-10_3255-7del
ENST00000493218.5:n.66_69del
ENST00000597692.1:c.224-10_224-7del
NM_000528.3:c.2665-10_2665-7del	NP_000519.2:n.2665-10_2665-7del
NM_001173498.1:c.2662-10_2662-7del	NP_001166969.1:n.2662-10_2662-7del
XM_005259913.1:c.2668-10_2668-7del	XP_005259970.1:n.2668-10_2668-7del
XM_011528017.1:c.1564-10_1564-7del	XP_011526319.1:n.1564-10_1564-7del
XM_005259913.2:c.2668-10_2668-7del	XP_005259970.1:n.2668-10_2668-7del
XM_024451518.1:c.1564-10_1564-7del	XP_024307286.1:n.1564-10_1564-7del
NM_000528.4:c.2665-10_2665-7del MANE Select	NP_000519.2:n.2665-10_2665-7del
NM_001173498.2:c.2662-10_2662-7del	NP_001166969.1:n.2662-10_2662-7del