Canonical Allele Identifier: CA246185
Gene: SLC45A2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.33951628A>G
GRCh37 chr5:g.33951733A>G
Revel Score:
ENST00000296589 (MANE Select) 0.702
ENST00000342059 0.702
ENST00000382102 0.702
ENST00000510600 0.702
ENST00000345083 0.702
gnomAD v2:
5:33951733 A / G
gnomAD v3:
5:33951628 A / G
gnomAD v4:
chr5-33951628-A-G
Joint Max Group AF 0.00003666 (NFE)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00003171 (NFE)
ClinVar RCV:
RCV000004757
RCV000178964
ClinVar Variation:
4499
dbSNP:
121912619
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951628A>G , CM000667.2:g.33951628A>G GRCh38
NC_000005.9:g.33951733A>G , CM000667.1:g.33951733A>G GRCh37
NC_000005.8:g.33987490A>G NCBI36
NG_011691.2:g.38048T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1082T>C MANE Select ENSP00000296589.4:p.Leu361Pro
ENST00000296589.8:c.1082T>C ENSP00000296589.4:p.Leu361Pro
ENST00000382102.7:c.1082T>C ENSP00000371534.3:p.Leu361Pro
ENST00000509381.1:c.*24T>C ENSP00000421100.1:n.*24T>C
ENST00000510600.1:c.557T>C ENSP00000424010.1:p.Leu186Pro
NM_001012509.3:c.1082T>C NP_001012527.1:p.Leu361Pro
NM_001297417.2:c.*24T>C NP_001284346.2:n.*24T>C
NM_016180.4:c.1082T>C NP_057264.3:p.Leu361Pro
XM_011514051.1:c.680T>C XP_011512353.1:p.Leu227Pro
XR_925620.1:n.1899T>C
NM_016180.5:c.1082T>C MANE Select NP_057264.4:p.Leu361Pro
NM_001012509.4:c.1082T>C NP_001012527.2:p.Leu361Pro
NM_001297417.3:c.*24T>C NP_001284346.2:n.*24T>C
NM_001297417.4:c.*24T>C NP_001284346.2:n.*24T>C
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