Canonical Allele Identifier: CA10604107

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 282220
• ClinVar RCV Id: RCV000292085
• dbSNP Id: rs886042344
• MyVariant Identifiers: chr5:g.33951663A>C (hg19) ; chr5:g.33951558A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951558A>C , CM000667.2:g.33951558A>C	GRCh38
NC_000005.9:g.33951663A>C , CM000667.1:g.33951663A>C	GRCh37
NC_000005.8:g.33987420A>C	NCBI36
NG_011691.2:g.38118T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1152T>G MANE Select	ENSP00000296589.4:p.Tyr384Ter
ENST00000296589.8:c.1152T>G	ENSP00000296589.4:p.Tyr384Ter
ENST00000382102.7:c.1152T>G	ENSP00000371534.3:p.Tyr384Ter
ENST00000509381.1:c.*94T>G	ENSP00000421100.1:n.*94T>G
ENST00000510600.1:c.627T>G	ENSP00000424010.1:p.Tyr209Ter
NM_001012509.3:c.1152T>G	NP_001012527.1:p.Tyr384Ter
NM_001297417.2:c.*94T>G	NP_001284346.2:n.*94T>G
NM_016180.4:c.1152T>G	NP_057264.3:p.Tyr384Ter
XM_011514051.1:c.750T>G	XP_011512353.1:p.Tyr250Ter
XR_925620.1:n.1969T>G
NM_016180.5:c.1152T>G MANE Select	NP_057264.4:p.Tyr384Ter
NM_001012509.4:c.1152T>G	NP_001012527.2:p.Tyr384Ter
NM_001297417.3:c.*94T>G	NP_001284346.2:n.*94T>G
NM_001297417.4:c.*94T>G	NP_001284346.2:n.*94T>G