Canonical Allele Identifier: CA783349343

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1324770384
• gnomAD v4: 19-12657993-AG-A
• MyVariant Identifiers: chr19:g.12768808del (hg19) ; chr19:g.12657994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657999del , CM000681.2:g.12657999del	GRCh38
NC_000019.9:g.12768813del , CM000681.1:g.12768813del	GRCh37
NC_000019.8:g.12629813del	NCBI36
NG_008318.1:g.13784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+69del MANE Select	ENSP00000395473.2:n.1309+69del
ENST00000221363.8:c.1306+69del	ENSP00000221363.4:n.1306+69del
ENST00000456935.6:c.1309+69del	ENSP00000395473.2:n.1309+69del
ENST00000465830.1:n.473+69del
ENST00000466794.5:n.1208+69del
ENST00000495617.1:n.281-234del
NM_000528.3:c.1309+69del	NP_000519.2:n.1309+69del
NM_001173498.1:c.1306+69del	NP_001166969.1:n.1306+69del
XM_005259913.1:c.1312+69del	XP_005259970.1:n.1312+69del
XM_011528017.1:c.208+69del	XP_011526319.1:n.208+69del
XM_005259913.2:c.1312+69del	XP_005259970.1:n.1312+69del
XM_024451518.1:c.208+69del	XP_024307286.1:n.208+69del
NM_000528.4:c.1309+69del MANE Select	NP_000519.2:n.1309+69del
NM_001173498.2:c.1306+69del	NP_001166969.1:n.1306+69del