Canonical Allele Identifier: CA2580073180

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1901065
• ClinVar RCV Id: RCV002576588

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984569_33984570delinsTT , CM000667.2:g.33984569_33984570delinsTT	GRCh38
NC_000005.9:g.33984674_33984675delinsTT , CM000667.1:g.33984674_33984675delinsTT	GRCh37
NC_000005.8:g.34020431_34020432delinsTT	NCBI36
NG_011691.2:g.5106_5107delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.14_15delinsAA MANE Select	ENSP00000296589.4:p.Ser5Lys
ENST00000296589.8:c.14_15delinsAA	ENSP00000296589.4:p.Ser5Lys
ENST00000382102.7:c.14_15delinsAA	ENSP00000371534.3:p.Ser5Lys
ENST00000509381.1:c.14_15delinsAA	ENSP00000421100.1:p.Ser5Lys
NM_001012509.3:c.14_15delinsAA	NP_001012527.1:p.Ser5Lys
NM_001297417.2:c.14_15delinsAA	NP_001284346.2:p.Ser5Lys
NM_016180.4:c.14_15delinsAA	NP_057264.3:p.Ser5Lys
XM_011514052.1:c.14_15delinsAA	XP_011512354.1:p.Ser5Lys
XR_925620.1:n.575_576delinsAA
NM_016180.5:c.14_15delinsAA MANE Select	NP_057264.4:p.Ser5Lys
NM_001012509.4:c.14_15delinsAA	NP_001012527.2:p.Ser5Lys
NM_001297417.3:c.14_15delinsAA	NP_001284346.2:p.Ser5Lys
NM_001297417.4:c.14_15delinsAA	NP_001284346.2:p.Ser5Lys