Canonical Allele Identifier: CA915943323

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 828165
• ClinVar RCV Id: RCV001028049
• dbSNP Id: rs1579547726

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963709del , CM000667.2:g.33963709del	GRCh38
NC_000005.9:g.33963814del , CM000667.1:g.33963814del	GRCh37
NC_000005.8:g.33999571del	NCBI36
NG_011691.2:g.25967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.870del MANE Select	ENSP00000296589.4:p.Asn290LysfsTer12
ENST00000296589.8:c.870del	ENSP00000296589.4:p.Asn290LysfsTer12
ENST00000382102.7:c.870del	ENSP00000371534.3:p.Asn290LysfsTer12
ENST00000505056.1:n.672del
ENST00000509381.1:c.563-9205del	ENSP00000421100.1:n.563-9205del
ENST00000510600.1:c.345del	ENSP00000424010.1:p.Asn115LysfsTer12
NM_001012509.3:c.870del	NP_001012527.1:p.Asn290LysfsTer12
NM_001297417.2:c.563-9205del	NP_001284346.2:n.563-9205del
NM_016180.4:c.870del	NP_057264.3:p.Asn290LysfsTer12
XM_011514051.1:c.468del	XP_011512353.1:p.Asn156LysfsTer12
XM_011514052.1:c.870del	XP_011512354.1:p.Asn290LysfsTer?
XR_925620.1:n.1687del
NM_016180.5:c.870del MANE Select	NP_057264.4:p.Asn290LysfsTer12
NM_001012509.4:c.870del	NP_001012527.2:p.Asn290LysfsTer12
NM_001297417.3:c.563-9205del	NP_001284346.2:n.563-9205del
NM_001297417.4:c.563-9205del	NP_001284346.2:n.563-9205del