Canonical Allele Identifier: CA783348295

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2419159
• ClinVar RCV Id: RCV003112403
• dbSNP Id: rs1234850408
• gnomAD v3: 19-12657058-TGCGGAAGAGCGCAAAGGGACCGGTG-T
• gnomAD v4: 19-12657058-TGCGGAAGAGCGCAAAGGGACCGGTG-T
• MyVariant Identifiers: chr19:g.12767873_12767897del (hg19) ; chr19:g.12657059_12657083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657060_12657084del , CM000681.2:g.12657060_12657084del	GRCh38
NC_000019.9:g.12767874_12767898del , CM000681.1:g.12767874_12767898del	GRCh37
NC_000019.8:g.12628874_12628898del	NCBI36
NG_008318.1:g.14695_14719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-27_1420-3del MANE Select	ENSP00000395473.2:n.1420-27_1420-3del
ENST00000221363.8:c.1417-27_1417-3del	ENSP00000221363.4:n.1417-27_1417-3del
ENST00000433513.5:n.26-27_26-3del
ENST00000456935.6:c.1420-27_1420-3del	ENSP00000395473.2:n.1420-27_1420-3del
ENST00000466794.5:n.1319-27_1319-3del
ENST00000495617.1:n.596-27_596-3del
ENST00000593686.1:c.30-27_30-3del
ENST00000595880.5:n.17-27_17-3del
NM_000528.3:c.1420-27_1420-3del	NP_000519.2:n.1420-27_1420-3del
NM_001173498.1:c.1417-27_1417-3del	NP_001166969.1:n.1417-27_1417-3del
XM_005259913.1:c.1423-27_1423-3del	XP_005259970.1:n.1423-27_1423-3del
XM_011528017.1:c.319-27_319-3del	XP_011526319.1:n.319-27_319-3del
XM_005259913.2:c.1423-27_1423-3del	XP_005259970.1:n.1423-27_1423-3del
XM_024451518.1:c.319-27_319-3del	XP_024307286.1:n.319-27_319-3del
NM_000528.4:c.1420-27_1420-3del MANE Select	NP_000519.2:n.1420-27_1420-3del
NM_001173498.2:c.1417-27_1417-3del	NP_001166969.1:n.1417-27_1417-3del