Canonical Allele Identifier: CA359390132
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951665C>G , CM000667.2:g.33951665C>G GRCh38
NC_000005.9:g.33951770C>G , CM000667.1:g.33951770C>G GRCh37
NC_000005.8:g.33987527C>G NCBI36
NG_011691.2:g.38011G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1045G>C MANE Select ENSP00000296589.4:p.Gly349Arg
ENST00000296589.8:c.1045G>C ENSP00000296589.4:p.Gly349Arg
ENST00000382102.7:c.1045G>C ENSP00000371534.3:p.Gly349Arg
ENST00000509381.1:c.719G>C ENSP00000421100.1:p.Arg240Pro
ENST00000510600.1:c.520G>C ENSP00000424010.1:p.Gly174Arg
NM_001012509.3:c.1045G>C NP_001012527.1:p.Gly349Arg
NM_001297417.2:c.719G>C NP_001284346.2:p.Arg240Pro
NM_016180.4:c.1045G>C NP_057264.3:p.Gly349Arg
XM_011514051.1:c.643G>C XP_011512353.1:p.Gly215Arg
XR_925620.1:n.1862G>C
NM_016180.5:c.1045G>C MANE Select NP_057264.4:p.Gly349Arg
NM_001012509.4:c.1045G>C NP_001012527.2:p.Gly349Arg
NM_001297417.3:c.719G>C NP_001284346.2:p.Arg240Pro
NM_001297417.4:c.719G>C NP_001284346.2:p.Arg240Pro