Canonical Allele Identifier: CA632119619

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1406215050
• gnomAD v2: 19-12769272-AG-A
• MyVariant Identifiers: chr19:g.12769273del (hg19) ; chr19:g.12658459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658460del , CM000681.2:g.12658460del	GRCh38
NC_000019.9:g.12769274del , CM000681.1:g.12769274del	GRCh37
NC_000019.8:g.12630274del	NCBI36
NG_008318.1:g.13319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1078del MANE Select	ENSP00000395473.2:p.Leu360SerfsTer4
ENST00000221363.8:c.1075del	ENSP00000221363.4:p.Leu359SerfsTer4
ENST00000456935.6:c.1078del	ENSP00000395473.2:p.Leu360SerfsTer4
ENST00000465830.1:n.159del
ENST00000466794.5:n.1009-115del
ENST00000495617.1:n.280+272del
NM_000528.3:c.1078del	NP_000519.2:p.Leu360SerfsTer4
NM_001173498.1:c.1075del	NP_001166969.1:p.Leu359SerfsTer4
XM_005259913.1:c.1081del	XP_005259970.1:p.Leu361SerfsTer4
XM_011528017.1:c.9-115del	XP_011526319.1:n.9-115del
XM_005259913.2:c.1081del	XP_005259970.1:p.Leu361SerfsTer4
XM_024451518.1:c.9-115del	XP_024307286.1:n.9-115del
NM_000528.4:c.1078del MANE Select	NP_000519.2:p.Leu360SerfsTer4
NM_001173498.2:c.1075del	NP_001166969.1:p.Leu359SerfsTer4