Canonical Allele Identifier: CA359394042
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1410992
ClinVar RCV Id: RCV001920389
dbSNP Id: rs1316525295
gnomAD v2: 5-33964019-G-C
gnomAD v4: 5-33963914-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963914G>C , CM000667.2:g.33963914G>C GRCh38
NC_000005.9:g.33964019G>C , CM000667.1:g.33964019G>C GRCh37
NC_000005.8:g.33999776G>C NCBI36
NG_011691.2:g.25762C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.665C>G MANE Select ENSP00000296589.4:p.Ser222Cys
ENST00000296589.8:c.665C>G ENSP00000296589.4:p.Ser222Cys
ENST00000382102.7:c.665C>G ENSP00000371534.3:p.Ser222Cys
ENST00000505056.1:n.467C>G
ENST00000509381.1:c.563-9410C>G ENSP00000421100.1:n.563-9410C>G
ENST00000510600.1:c.140C>G ENSP00000424010.1:p.Ser47Cys
NM_001012509.3:c.665C>G NP_001012527.1:p.Ser222Cys
NM_001297417.2:c.563-9410C>G NP_001284346.2:n.563-9410C>G
NM_016180.4:c.665C>G NP_057264.3:p.Ser222Cys
XM_011514051.1:c.263C>G XP_011512353.1:p.Ser88Cys
XM_011514052.1:c.665C>G XP_011512354.1:p.Ser222Cys
XR_925620.1:n.1482C>G
NM_016180.5:c.665C>G MANE Select NP_057264.4:p.Ser222Cys
NM_001012509.4:c.665C>G NP_001012527.2:p.Ser222Cys
NM_001297417.3:c.563-9410C>G NP_001284346.2:n.563-9410C>G
NM_001297417.4:c.563-9410C>G NP_001284346.2:n.563-9410C>G