Canonical Allele Identifier: CA16043661
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374397
ClinVar RCV Id: RCV000415377
dbSNP Id: rs1057518722

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984421dup , CM000667.2:g.33984421dup GRCh38
NC_000005.9:g.33984526dup , CM000667.1:g.33984526dup GRCh37
NC_000005.8:g.34020283dup NCBI36
NG_011691.2:g.5255dup

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.163dup MANE Select ENSP00000296589.4:p.Tyr55LeufsTer?
ENST00000296589.8:c.163dup ENSP00000296589.4:p.Tyr55LeufsTer?
ENST00000382102.7:c.163dup ENSP00000371534.3:p.Tyr55LeufsTer?
ENST00000505056.1:n.142dup
ENST00000509381.1:c.163dup ENSP00000421100.1:p.Tyr55LeufsTer?
NM_001012509.3:c.163dup NP_001012527.1:p.Tyr55LeufsTer?
NM_001297417.2:c.163dup NP_001284346.2:p.Tyr55LeufsTer?
NM_016180.4:c.163dup NP_057264.3:p.Tyr55LeufsTer?
XM_011514052.1:c.163dup XP_011512354.1:p.Tyr55LeufsTer?
XR_925620.1:n.724dup
NM_016180.5:c.163dup MANE Select NP_057264.4:p.Tyr55LeufsTer?
NM_001012509.4:c.163dup NP_001012527.2:p.Tyr55LeufsTer?
NM_001297417.3:c.163dup NP_001284346.2:p.Tyr55LeufsTer?
NM_001297417.4:c.163dup NP_001284346.2:p.Tyr55LeufsTer?