Canonical Allele Identifier: CA359393235

Gene: SLC45A2

Linked Data

• dbSNP Id: rs2111961417
• COSMIC: COSM120100
• MyVariant Identifiers: chr5:g.33963864C>A (hg19) ; chr5:g.33963759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963759C>A , CM000667.2:g.33963759C>A	GRCh38
NC_000005.9:g.33963864C>A , CM000667.1:g.33963864C>A	GRCh37
NC_000005.8:g.33999621C>A	NCBI36
NG_011691.2:g.25917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.820G>T MANE Select	ENSP00000296589.4:p.Val274Phe
ENST00000296589.8:c.820G>T	ENSP00000296589.4:p.Val274Phe
ENST00000382102.7:c.820G>T	ENSP00000371534.3:p.Val274Phe
ENST00000505056.1:n.622G>T
ENST00000509381.1:c.563-9255G>T	ENSP00000421100.1:n.563-9255G>T
ENST00000510600.1:c.295G>T	ENSP00000424010.1:p.Val99Phe
NM_001012509.3:c.820G>T	NP_001012527.1:p.Val274Phe
NM_001297417.2:c.563-9255G>T	NP_001284346.2:n.563-9255G>T
NM_016180.4:c.820G>T	NP_057264.3:p.Val274Phe
XM_011514051.1:c.418G>T	XP_011512353.1:p.Val140Phe
XM_011514052.1:c.820G>T	XP_011512354.1:p.Val274Phe
XR_925620.1:n.1637G>T
NM_016180.5:c.820G>T MANE Select	NP_057264.4:p.Val274Phe
NM_001012509.4:c.820G>T	NP_001012527.2:p.Val274Phe
NM_001297417.3:c.563-9255G>T	NP_001284346.2:n.563-9255G>T
NM_001297417.4:c.563-9255G>T	NP_001284346.2:n.563-9255G>T