Canonical Allele Identifier: CA1538195952

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1507550
• ClinVar RCV Id: RCV002048102
• dbSNP Id: rs1752518978

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963780_33963781insTGT , CM000667.2:g.33963780_33963781insTGT	GRCh38
NC_000005.9:g.33963885_33963886insTGT , CM000667.1:g.33963885_33963886insTGT	GRCh37
NC_000005.8:g.33999642_33999643insTGT	NCBI36
NG_011691.2:g.25895_25896insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.798_799insACA MANE Select	ENSP00000296589.4:p.Tyr266_Glu267insThr
ENST00000296589.8:c.798_799insACA	ENSP00000296589.4:p.Tyr266_Glu267insThr
ENST00000382102.7:c.798_799insACA	ENSP00000371534.3:p.Tyr266_Glu267insThr
ENST00000505056.1:n.600_601insACA
ENST00000509381.1:c.563-9277_563-9276insACA	ENSP00000421100.1:n.563-9277_563-9276insACA
ENST00000510600.1:c.273_274insACA	ENSP00000424010.1:p.Tyr91_Glu92insThr
NM_001012509.3:c.798_799insACA	NP_001012527.1:p.Tyr266_Glu267insThr
NM_001297417.2:c.563-9277_563-9276insACA	NP_001284346.2:n.563-9277_563-9276insACA
NM_016180.4:c.798_799insACA	NP_057264.3:p.Tyr266_Glu267insThr
XM_011514051.1:c.396_397insACA	XP_011512353.1:p.Tyr132_Glu133insThr
XM_011514052.1:c.798_799insACA	XP_011512354.1:p.Tyr266_Glu267insThr
XR_925620.1:n.1615_1616insACA
NM_016180.5:c.798_799insACA MANE Select	NP_057264.4:p.Tyr266_Glu267insThr
NM_001012509.4:c.798_799insACA	NP_001012527.2:p.Tyr266_Glu267insThr
NM_001297417.3:c.563-9277_563-9276insACA	NP_001284346.2:n.563-9277_563-9276insACA
NM_001297417.4:c.563-9277_563-9276insACA	NP_001284346.2:n.563-9277_563-9276insACA