Canonical Allele Identifier: CA810011425
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs1361923692
gnomAD v3: 5-33958488-C-T
gnomAD v4: 5-33958488-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33958488C>T , CM000667.2:g.33958488C>T GRCh38
NC_000005.9:g.33958593C>T , CM000667.1:g.33958593C>T GRCh37
NC_000005.8:g.33994350C>T NCBI36
NG_011691.2:g.31188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.889-3984G>A MANE Select ENSP00000296589.4:n.889-3984G>A
ENST00000296589.8:c.889-3984G>A ENSP00000296589.4:n.889-3984G>A
ENST00000382102.7:c.889-3984G>A ENSP00000371534.3:n.889-3984G>A
ENST00000509381.1:c.563-3984G>A ENSP00000421100.1:n.563-3984G>A
ENST00000510600.1:c.364-3984G>A ENSP00000424010.1:n.364-3984G>A
NM_001012509.3:c.889-3984G>A NP_001012527.1:n.889-3984G>A
NM_001297417.2:c.563-3984G>A NP_001284346.2:n.563-3984G>A
NM_016180.4:c.889-3984G>A NP_057264.3:n.889-3984G>A
XM_011514051.1:c.487-3984G>A XP_011512353.1:n.487-3984G>A
XR_925620.1:n.1706-3984G>A
NM_016180.5:c.889-3984G>A MANE Select NP_057264.4:n.889-3984G>A
NM_001012509.4:c.889-3984G>A NP_001012527.2:n.889-3984G>A
NM_001297417.3:c.563-3984G>A NP_001284346.2:n.563-3984G>A
NM_001297417.4:c.563-3984G>A NP_001284346.2:n.563-3984G>A