Canonical Allele Identifier: CA783385337

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2676431
• ClinVar RCV Id: RCV003470044
• dbSNP Id: rs1337215414
• gnomAD v3: 19-12649175-CT-C
• gnomAD v4: 19-12649175-CT-C
• MyVariant Identifiers: chr19:g.12759990del (hg19) ; chr19:g.12649176del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649176del , CM000681.2:g.12649176del	GRCh38
NC_000019.9:g.12759990del , CM000681.1:g.12759990del	GRCh37
NC_000019.8:g.12620990del	NCBI36
NG_008318.1:g.22602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2396del MANE Select	ENSP00000395473.2:p.Gln799ArgfsTer6
ENST00000221363.8:c.2393del	ENSP00000221363.4:p.Gln798ArgfsTer6
ENST00000456935.6:c.2396del	ENSP00000395473.2:p.Gln799ArgfsTer6
ENST00000466794.5:n.2986del
NM_000528.3:c.2396del	NP_000519.2:p.Gln799ArgfsTer6
NM_001173498.1:c.2393del	NP_001166969.1:p.Gln798ArgfsTer6
XM_005259913.1:c.2399del	XP_005259970.1:p.Gln800ArgfsTer6
XM_011528017.1:c.1295del	XP_011526319.1:p.Gln432ArgfsTer6
XM_005259913.2:c.2399del	XP_005259970.1:p.Gln800ArgfsTer6
XM_024451518.1:c.1295del	XP_024307286.1:p.Gln432ArgfsTer6
NM_000528.4:c.2396del MANE Select	NP_000519.2:p.Gln799ArgfsTer6
NM_001173498.2:c.2393del	NP_001166969.1:p.Gln798ArgfsTer6