Canonical Allele Identifier: CA631832352

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1365509974
• gnomAD v2: 19-12758667-GGCGGGGCTGAAGCC-G
• gnomAD v3: 19-12647853-GGCGGGGCTGAAGCC-G
• gnomAD v4: 19-12647853-GGCGGGGCTGAAGCC-G
• MyVariant Identifiers: chr19:g.12758668_12758681del (hg19) ; chr19:g.12647854_12647867del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647863_12647876del , CM000681.2:g.12647863_12647876del	GRCh38
NC_000019.9:g.12758677_12758690del , CM000681.1:g.12758677_12758690del	GRCh37
NC_000019.8:g.12619677_12619690del	NCBI36
NG_008318.1:g.23911_23924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-269_2665-256del MANE Select	ENSP00000395473.2:n.2665-269_2665-256del
ENST00000221363.8:c.2662-269_2662-256del	ENSP00000221363.4:n.2662-269_2662-256del
ENST00000456935.6:c.2665-269_2665-256del	ENSP00000395473.2:n.2665-269_2665-256del
ENST00000466794.5:n.3255-269_3255-256del
ENST00000597692.1:c.224-269_224-256del
NM_000528.3:c.2665-269_2665-256del	NP_000519.2:n.2665-269_2665-256del
NM_001173498.1:c.2662-269_2662-256del	NP_001166969.1:n.2662-269_2662-256del
XM_005259913.1:c.2668-269_2668-256del	XP_005259970.1:n.2668-269_2668-256del
XM_011528017.1:c.1564-269_1564-256del	XP_011526319.1:n.1564-269_1564-256del
XM_005259913.2:c.2668-269_2668-256del	XP_005259970.1:n.2668-269_2668-256del
XM_024451518.1:c.1564-269_1564-256del	XP_024307286.1:n.1564-269_1564-256del
NM_000528.4:c.2665-269_2665-256del MANE Select	NP_000519.2:n.2665-269_2665-256del
NM_001173498.2:c.2662-269_2662-256del	NP_001166969.1:n.2662-269_2662-256del