Canonical Allele Identifier: CA558966570

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1561356877
• gnomAD v2: 5-33951673-GA-G
• gnomAD v4: 5-33951568-GA-G
• MyVariant Identifiers: chr5:g.33951674del (hg19) ; chr5:g.33951569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951572del , CM000667.2:g.33951572del	GRCh38
NC_000005.9:g.33951677del , CM000667.1:g.33951677del	GRCh37
NC_000005.8:g.33987434del	NCBI36
NG_011691.2:g.38107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1141del MANE Select	ENSP00000296589.4:p.Ser381ProfsTer17
ENST00000296589.8:c.1141del	ENSP00000296589.4:p.Ser381ProfsTer17
ENST00000382102.7:c.1141del	ENSP00000371534.3:p.Ser381ProfsTer17
ENST00000509381.1:c.*83del	ENSP00000421100.1:n.*83del
ENST00000510600.1:c.616del	ENSP00000424010.1:p.Ser206ProfsTer17
NM_001012509.3:c.1141del	NP_001012527.1:p.Ser381ProfsTer17
NM_001297417.2:c.*83del	NP_001284346.2:n.*83del
NM_016180.4:c.1141del	NP_057264.3:p.Ser381ProfsTer17
XM_011514051.1:c.739del	XP_011512353.1:p.Ser247ProfsTer17
XR_925620.1:n.1958del
NM_016180.5:c.1141del MANE Select	NP_057264.4:p.Ser381ProfsTer17
NM_001012509.4:c.1141del	NP_001012527.2:p.Ser381ProfsTer17
NM_001297417.3:c.*83del	NP_001284346.2:n.*83del
NM_001297417.4:c.*83del	NP_001284346.2:n.*83del