Canonical Allele Identifier: CA558967715

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1249095408
• gnomAD v2: 5-33964113-CT-C
• gnomAD v4: 5-33964008-CT-C
• MyVariant Identifiers: chr5:g.33964114del (hg19) ; chr5:g.33964009del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964009del , CM000667.2:g.33964009del	GRCh38
NC_000005.9:g.33964114del , CM000667.1:g.33964114del	GRCh37
NC_000005.8:g.33999871del	NCBI36
NG_011691.2:g.25667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.570del MANE Select	ENSP00000296589.4:p.Gly191ValfsTer10
ENST00000296589.8:c.570del	ENSP00000296589.4:p.Gly191ValfsTer10
ENST00000382102.7:c.570del	ENSP00000371534.3:p.Gly191ValfsTer10
ENST00000505056.1:n.372del
ENST00000509381.1:c.563-9505del	ENSP00000421100.1:n.563-9505del
ENST00000510600.1:c.45del	ENSP00000424010.1:p.Gly16ValfsTer10
NM_001012509.3:c.570del	NP_001012527.1:p.Gly191ValfsTer10
NM_001297417.2:c.563-9505del	NP_001284346.2:n.563-9505del
NM_016180.4:c.570del	NP_057264.3:p.Gly191ValfsTer10
XM_011514051.1:c.168del	XP_011512353.1:p.Gly57ValfsTer10
XM_011514052.1:c.570del	XP_011512354.1:p.Gly191ValfsTer10
XR_925620.1:n.1387del
NM_016180.5:c.570del MANE Select	NP_057264.4:p.Gly191ValfsTer10
NM_001012509.4:c.570del	NP_001012527.2:p.Gly191ValfsTer10
NM_001297417.3:c.563-9505del	NP_001284346.2:n.563-9505del
NM_001297417.4:c.563-9505del	NP_001284346.2:n.563-9505del