Canonical Allele Identifier: CA3225697

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1458648
• ClinVar RCV Id: RCV001949561
• dbSNP Id: rs753041550
• ExAC: 5:33963881 T / TA
• gnomAD v2: 5-33963881-T-TA
• gnomAD v3: 5-33963776-T-TA
• gnomAD v4: 5-33963776-T-TA
• MyVariant Identifiers: chr5:g.33963881_33963882insA (hg19) ; chr5:g.33963776_33963777insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963777dup , CM000667.2:g.33963777dup	GRCh38
NC_000005.9:g.33963882dup , CM000667.1:g.33963882dup	GRCh37
NC_000005.8:g.33999639dup	NCBI36
NG_011691.2:g.25899dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.802dup MANE Select	ENSP00000296589.4:p.Tyr268LeufsTer8
ENST00000296589.8:c.802dup	ENSP00000296589.4:p.Tyr268LeufsTer8
ENST00000382102.7:c.802dup	ENSP00000371534.3:p.Tyr268LeufsTer8
ENST00000505056.1:n.604dup
ENST00000509381.1:c.563-9273dup	ENSP00000421100.1:n.563-9273dup
ENST00000510600.1:c.277dup	ENSP00000424010.1:p.Tyr93LeufsTer8
NM_001012509.3:c.802dup	NP_001012527.1:p.Tyr268LeufsTer8
NM_001297417.2:c.563-9273dup	NP_001284346.2:n.563-9273dup
NM_016180.4:c.802dup	NP_057264.3:p.Tyr268LeufsTer8
XM_011514051.1:c.400dup	XP_011512353.1:p.Tyr134LeufsTer8
XM_011514052.1:c.802dup	XP_011512354.1:p.Tyr268LeufsTer8
XR_925620.1:n.1619dup
NM_016180.5:c.802dup MANE Select	NP_057264.4:p.Tyr268LeufsTer8
NM_001012509.4:c.802dup	NP_001012527.2:p.Tyr268LeufsTer8
NM_001297417.3:c.563-9273dup	NP_001284346.2:n.563-9273dup
NM_001297417.4:c.563-9273dup	NP_001284346.2:n.563-9273dup