Canonical Allele Identifier: CA203114
Gene: SLC45A2 HGNC NCBI
COSMIC:
COSM5002370 (not active)
COSM5002371 (not active)
MyVariant.info:
GRCh38 chr5:g.33951588C>G
GRCh37 chr5:g.33951693C>G
Revel Score:
ENST00000296589 (MANE Select) 0.691
ENST00000342059 0.691
ENST00000382102 0.691
ENST00000510600 0.691
ENST00000345083 0.691
gnomAD v2:
5:33951693 C / G
gnomAD v3:
5:33951588 C / G
gnomAD v4:
chr5-33951588-C-G
Joint Max Group AF 0.96757199 (NFE)
Genomes Max Group AF 0.9557714 (NFE)
Exomes Max Group AF 0.96796207 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951588C>G , CM000667.2:g.33951588C>G GRCh38
NC_000005.9:g.33951693C>G , CM000667.1:g.33951693C>G GRCh37
NC_000005.8:g.33987450C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1122G>C MANE Select ENSP00000296589.4:p.Leu374Phe
ENST00000296589.8:c.1122G>C ENSP00000296589.4:p.Leu374Phe
ENST00000382102.7:c.1122G>C ENSP00000371534.3:p.Leu374Phe
ENST00000509381.1:c.*64G>C ENSP00000421100.1:n.*64G>C
ENST00000510600.1:c.597G>C ENSP00000424010.1:p.Leu199Phe
XM_011514051.1:c.720G>C XP_011512353.1:p.Leu240Phe
XR_925620.1:n.1939G>C
NM_016180.5:c.1122G>C MANE Select NP_057264.4:p.Leu374Phe
NM_001012509.4:c.1122G>C NP_001012527.2:p.Leu374Phe
NM_001297417.3:c.*64G>C NP_001284346.2:n.*64G>C
NM_001297417.4:c.*64G>C NP_001284346.2:n.*64G>C
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