Canonical Allele Identifier: CA2580612595

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1403859
• ClinVar RCV Id: RCV001901344
• dbSNP Id: rs2145290731
• gnomAD v4: 19-12665749-ATGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665754_12665757del , CM000681.2:g.12665754_12665757del	GRCh38
NC_000019.9:g.12776568_12776571del , CM000681.1:g.12776568_12776571del	GRCh37
NC_000019.8:g.12637568_12637571del	NCBI36
NG_008318.1:g.6025_6028del
NG_015814.1:g.3951_3954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.212_215del MANE Select	ENSP00000395473.2:p.Thr71MetfsTer?
ENST00000221363.8:c.212_215del	ENSP00000221363.4:p.Thr71MetfsTer?
ENST00000456935.6:c.212_215del	ENSP00000395473.2:p.Thr71MetfsTer?
ENST00000466794.5:n.194_197del
ENST00000486847.2:c.160-228_160-225del	ENSP00000470174.1:n.160-228_160-225del
ENST00000596512.5:n.201-228_201-225del
ENST00000597961.1:c.203_206del	ENSP00000472710.1:p.Thr68MetfsTer?
ENST00000598876.1:c.239_242del	ENSP00000470533.1:p.Thr80MetfsTer?
ENST00000600281.1:n.253_256del
NM_000528.3:c.212_215del	NP_000519.2:p.Thr71MetfsTer?
NM_001173498.1:c.212_215del	NP_001166969.1:p.Thr71MetfsTer?
XM_005259913.1:c.212_215del	XP_005259970.1:p.Thr71MetfsTer?
XM_005259913.2:c.212_215del	XP_005259970.1:p.Thr71MetfsTer?
XM_024451518.1:c.-807_-804del	XP_024307286.1:n.-807_-804del
NM_000528.4:c.212_215del MANE Select	NP_000519.2:p.Thr71MetfsTer?
NM_001173498.2:c.212_215del	NP_001166969.1:p.Thr71MetfsTer?