Canonical Allele Identifier: CA2708432427

Gene: SLC45A2

Linked Data

• dbSNP Id: rs2112021341

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984414del , CM000667.2:g.33984414del	GRCh38
NC_000005.9:g.33984519del , CM000667.1:g.33984519del	GRCh37
NC_000005.8:g.34020276del	NCBI36
NG_011691.2:g.5265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.173del MANE Select	ENSP00000296589.4:p.Pro58GlnfsTer6
ENST00000296589.8:c.173del	ENSP00000296589.4:p.Pro58GlnfsTer6
ENST00000382102.7:c.173del	ENSP00000371534.3:p.Pro58GlnfsTer6
ENST00000505056.1:n.152del
ENST00000509381.1:c.173del	ENSP00000421100.1:p.Pro58GlnfsTer6
NM_001012509.3:c.173del	NP_001012527.1:p.Pro58GlnfsTer6
NM_001297417.2:c.173del	NP_001284346.2:p.Pro58GlnfsTer6
NM_016180.4:c.173del	NP_057264.3:p.Pro58GlnfsTer6
XM_011514052.1:c.173del	XP_011512354.1:p.Pro58GlnfsTer6
XR_925620.1:n.734del
NM_016180.5:c.173del MANE Select	NP_057264.4:p.Pro58GlnfsTer6
NM_001012509.4:c.173del	NP_001012527.2:p.Pro58GlnfsTer6
NM_001297417.3:c.173del	NP_001284346.2:p.Pro58GlnfsTer6
NM_001297417.4:c.173del	NP_001284346.2:p.Pro58GlnfsTer6