Canonical Allele Identifier: CA2573156084

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1350785
• ClinVar RCV Id: RCV002042128
• dbSNP Id: rs2145290586

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665729_12665730del , CM000681.2:g.12665729_12665730del	GRCh38
NC_000019.9:g.12776543_12776544del , CM000681.1:g.12776543_12776544del	GRCh37
NC_000019.8:g.12637543_12637544del	NCBI36
NG_008318.1:g.6050_6051del
NG_015814.1:g.3926_3927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.237_238del MANE Select	ENSP00000395473.2:p.Lys79AsnfsTer12
ENST00000221363.8:c.237_238del	ENSP00000221363.4:p.Lys79AsnfsTer12
ENST00000456935.6:c.237_238del	ENSP00000395473.2:p.Lys79AsnfsTer12
ENST00000466794.5:n.219_220del
ENST00000486847.2:c.160-203_160-202del	ENSP00000470174.1:n.160-203_160-202del
ENST00000596512.5:n.201-203_201-202del
ENST00000597961.1:c.228_229del	ENSP00000472710.1:p.Lys76AsnfsTer12
ENST00000598876.1:c.264_265del	ENSP00000470533.1:p.Lys88AsnfsTer12
ENST00000600281.1:n.278_279del
NM_000528.3:c.237_238del	NP_000519.2:p.Lys79AsnfsTer12
NM_001173498.1:c.237_238del	NP_001166969.1:p.Lys79AsnfsTer12
XM_005259913.1:c.237_238del	XP_005259970.1:p.Lys79AsnfsTer12
XM_005259913.2:c.237_238del	XP_005259970.1:p.Lys79AsnfsTer12
XM_024451518.1:c.-782_-781del	XP_024307286.1:n.-782_-781del
NM_000528.4:c.237_238del MANE Select	NP_000519.2:p.Lys79AsnfsTer12
NM_001173498.2:c.237_238del	NP_001166969.1:p.Lys79AsnfsTer12