Canonical Allele Identifier: CA3225869

Gene: SLC45A2

Linked Data

• dbSNP Id: rs746805783
• ExAC: 5:33984543 TAGC / T
• gnomAD v2: 5-33984543-TAGC-T
• MyVariant Identifiers: chr5:g.33984544_33984546del (hg19) ; chr5:g.33984439_33984441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984441_33984443del , CM000667.2:g.33984441_33984443del	GRCh38
NC_000005.9:g.33984546_33984548del , CM000667.1:g.33984546_33984548del	GRCh37
NC_000005.8:g.34020303_34020305del	NCBI36
NG_011691.2:g.5235_5237del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.143_145del MANE Select	ENSP00000296589.4:p.Cys48del
ENST00000296589.8:c.143_145del	ENSP00000296589.4:p.Cys48del
ENST00000382102.7:c.143_145del	ENSP00000371534.3:p.Cys48del
ENST00000505056.1:n.122_124del
ENST00000509381.1:c.143_145del	ENSP00000421100.1:p.Cys48del
NM_001012509.3:c.143_145del	NP_001012527.1:p.Cys48del
NM_001297417.2:c.143_145del	NP_001284346.2:p.Cys48del
NM_016180.4:c.143_145del	NP_057264.3:p.Cys48del
XM_011514052.1:c.143_145del	XP_011512354.1:p.Cys48del
XR_925620.1:n.704_706del
NM_016180.5:c.143_145del MANE Select	NP_057264.4:p.Cys48del
NM_001012509.4:c.143_145del	NP_001012527.2:p.Cys48del
NM_001297417.3:c.143_145del	NP_001284346.2:p.Cys48del
NM_001297417.4:c.143_145del	NP_001284346.2:p.Cys48del