Canonical Allele Identifier: CA351305

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 242518
• ClinVar RCV Id: RCV000729765 ; RCV000779473
• dbSNP Id: rs775387808
• ExAC: 5:33984424 CG / C
• gnomAD v2: 5-33984424-CG-C
• gnomAD v3: 5-33984319-CG-C
• gnomAD v4: 5-33984319-CG-C
• MyVariant Identifiers: chr5:g.33984425del (hg19) ; chr5:g.33984320del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984320del , CM000667.2:g.33984320del	GRCh38
NC_000005.9:g.33984425del , CM000667.1:g.33984425del	GRCh37
NC_000005.8:g.34020182del	NCBI36
NG_011691.2:g.5356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.264del MANE Select	ENSP00000296589.4:p.Gly89AspfsTer24
ENST00000296589.8:c.264del	ENSP00000296589.4:p.Gly89AspfsTer24
ENST00000382102.7:c.264del	ENSP00000371534.3:p.Gly89AspfsTer24
ENST00000505056.1:n.243del
ENST00000509381.1:c.264del	ENSP00000421100.1:p.Gly89AspfsTer24
NM_001012509.3:c.264del	NP_001012527.1:p.Gly89AspfsTer24
NM_001297417.2:c.264del	NP_001284346.2:p.Gly89AspfsTer24
NM_016180.4:c.264del	NP_057264.3:p.Gly89AspfsTer24
XM_011514052.1:c.264del	XP_011512354.1:p.Gly89AspfsTer24
XR_925620.1:n.825del
NM_016180.5:c.264del MANE Select	NP_057264.4:p.Gly89AspfsTer24
NM_001012509.4:c.264del	NP_001012527.2:p.Gly89AspfsTer24
NM_001297417.3:c.264del	NP_001284346.2:p.Gly89AspfsTer24
NM_001297417.4:c.264del	NP_001284346.2:p.Gly89AspfsTer24