Canonical Allele Identifier: CA305471878

Gene: MAN2B1

Linked Data

• dbSNP Id: rs796472022
• gnomAD v3: 19-12658578-CAT-C
• gnomAD v4: 19-12658578-CAT-C
• MyVariant Identifiers: chr19:g.12769393_12769394del (hg19) ; chr19:g.12658579_12658580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658579_12658580del , CM000681.2:g.12658579_12658580del	GRCh38
NC_000019.9:g.12769393_12769394del , CM000681.1:g.12769393_12769394del	GRCh37
NC_000019.8:g.12630393_12630394del	NCBI36
NG_008318.1:g.13198_13199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-70_1027-69del MANE Select	ENSP00000395473.2:n.1027-70_1027-69del
ENST00000221363.8:c.1027-73_1027-72del	ENSP00000221363.4:n.1027-73_1027-72del
ENST00000456935.6:c.1027-70_1027-69del	ENSP00000395473.2:n.1027-70_1027-69del
ENST00000465830.1:n.38_39del
ENST00000466794.5:n.1009-236_1009-235del
ENST00000495617.1:n.280+151_280+152del
NM_000528.3:c.1027-70_1027-69del	NP_000519.2:n.1027-70_1027-69del
NM_001173498.1:c.1027-73_1027-72del	NP_001166969.1:n.1027-73_1027-72del
XM_005259913.1:c.1027-67_1027-66del	XP_005259970.1:n.1027-67_1027-66del
XM_011528017.1:c.9-236_9-235del	XP_011526319.1:n.9-236_9-235del
XM_005259913.2:c.1027-67_1027-66del	XP_005259970.1:n.1027-67_1027-66del
XM_024451518.1:c.9-236_9-235del	XP_024307286.1:n.9-236_9-235del
NM_000528.4:c.1027-70_1027-69del MANE Select	NP_000519.2:n.1027-70_1027-69del
NM_001173498.2:c.1027-73_1027-72del	NP_001166969.1:n.1027-73_1027-72del