Canonical Allele Identifier: CA359389993
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs1401237532
gnomAD v2: 5-33951746-A-G
gnomAD v3: 5-33951641-A-G
gnomAD v4: 5-33951641-A-G
MyVariant Identifiers: chr5:g.33951746A>G (hg19) chr5:g.33951746_33951773delinsGGTTGTGTGCACTATAGGGATCCCCGCG (hg19) chr5:g.33951641A>G (hg38) chr5:g.33951641_33951668delinsGGTTGTGTGCACTATAGGGATCCCCGCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951641A>G , CM000667.2:g.33951641A>G GRCh38
NC_000005.9:g.33951746A>G , CM000667.1:g.33951746A>G GRCh37
NC_000005.8:g.33987503A>G NCBI36
NG_011691.2:g.38035T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1069T>C MANE Select ENSP00000296589.4:p.Ser357Pro
ENST00000296589.8:c.1069T>C ENSP00000296589.4:p.Ser357Pro
ENST00000382102.7:c.1069T>C ENSP00000371534.3:p.Ser357Pro
ENST00000509381.1:c.*11T>C ENSP00000421100.1:n.*11T>C
ENST00000510600.1:c.544T>C ENSP00000424010.1:p.Ser182Pro
NM_001012509.3:c.1069T>C NP_001012527.1:p.Ser357Pro
NM_001297417.2:c.*11T>C NP_001284346.2:n.*11T>C
NM_016180.4:c.1069T>C NP_057264.3:p.Ser357Pro
XM_011514051.1:c.667T>C XP_011512353.1:p.Ser223Pro
XR_925620.1:n.1886T>C
NM_016180.5:c.1069T>C MANE Select NP_057264.4:p.Ser357Pro
NM_001012509.4:c.1069T>C NP_001012527.2:p.Ser357Pro
NM_001297417.3:c.*11T>C NP_001284346.2:n.*11T>C
NM_001297417.4:c.*11T>C NP_001284346.2:n.*11T>C
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