Canonical Allele Identifier: CA16044018

Gene: CBX2

Linked Data

• ClinVar Variation Id: 375260
• ClinVar RCV Id: RCV000416338
• dbSNP Id: rs1057519060
• MyVariant Identifiers: chr17:g.77755576del (hg19) ; chr17:g.79781777del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79781777del , CM000679.2:g.79781777del	GRCh38
NC_000017.10:g.77755576del , CM000679.1:g.77755576del	GRCh37
NC_000017.9:g.75370171del	NCBI36
NG_016986.1:g.8600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310942.9:c.264del MANE Select	ENSP00000308750.4:p.Cys89AlafsTer?
ENST00000269399.5:c.264del	ENSP00000269399.5:p.Cys89AlafsTer26
ENST00000310942.8:c.264del	ENSP00000308750.4:p.Cys89AlafsTer?
NM_005189.2:c.264del	NP_005180.1:p.Cys89AlafsTer?
NM_032647.3:c.264del	NP_116036.1:p.Cys89AlafsTer26
XM_011525382.1:c.264del	XP_011523684.1:p.Cys89AlafsTer?
XM_011525383.1:c.9del	XP_011523685.1:p.Cys4AlafsTer?
XM_011525383.2:c.9del	XP_011523685.1:p.Cys4AlafsTer?
NM_005189.3:c.264del MANE Select	NP_005180.1:p.Cys89AlafsTer?
NM_032647.4:c.264del	NP_116036.1:p.Cys89AlafsTer26