Canonical Allele Identifier: CA505770843

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1346278110
• gnomAD v3: 19-12657979-AAAG-A
• gnomAD v4: 19-12657979-AAAG-A
• MyVariant Identifiers: chr19:g.12768794_12768796del (hg19) ; chr19:g.12657980_12657982del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657985_12657987del , CM000681.2:g.12657985_12657987del	GRCh38
NC_000019.9:g.12768799_12768801del , CM000681.1:g.12768799_12768801del	GRCh37
NC_000019.8:g.12629799_12629801del	NCBI36
NG_008318.1:g.13796_13798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+81_1309+83del MANE Select	ENSP00000395473.2:n.1309+81_1309+83del
ENST00000221363.8:c.1306+81_1306+83del	ENSP00000221363.4:n.1306+81_1306+83del
ENST00000456935.6:c.1309+81_1309+83del	ENSP00000395473.2:n.1309+81_1309+83del
ENST00000465830.1:n.473+81_473+83del
ENST00000466794.5:n.1208+81_1208+83del
ENST00000495617.1:n.281-222_281-220del
NM_000528.3:c.1309+81_1309+83del	NP_000519.2:n.1309+81_1309+83del
NM_001173498.1:c.1306+81_1306+83del	NP_001166969.1:n.1306+81_1306+83del
XM_005259913.1:c.1312+81_1312+83del	XP_005259970.1:n.1312+81_1312+83del
XM_011528017.1:c.208+81_208+83del	XP_011526319.1:n.208+81_208+83del
XM_005259913.2:c.1312+81_1312+83del	XP_005259970.1:n.1312+81_1312+83del
XM_024451518.1:c.208+81_208+83del	XP_024307286.1:n.208+81_208+83del
NM_000528.4:c.1309+81_1309+83del MANE Select	NP_000519.2:n.1309+81_1309+83del
NM_001173498.2:c.1306+81_1306+83del	NP_001166969.1:n.1306+81_1306+83del