Canonical Allele Identifier: CA359389695

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1315864445
• gnomAD v2: 5-33951673-G-A
• gnomAD v3: 5-33951568-G-A
• gnomAD v4: 5-33951568-G-A
• COSMIC: COSM4459850 ; COSM4459851
• MyVariant Identifiers: chr5:g.33951673G>A (hg19) ; chr5:g.33951568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951568G>A , CM000667.2:g.33951568G>A	GRCh38
NC_000005.9:g.33951673G>A , CM000667.1:g.33951673G>A	GRCh37
NC_000005.8:g.33987430G>A	NCBI36
NG_011691.2:g.38108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1142C>T MANE Select	ENSP00000296589.4:p.Ser381Phe
ENST00000296589.8:c.1142C>T	ENSP00000296589.4:p.Ser381Phe
ENST00000382102.7:c.1142C>T	ENSP00000371534.3:p.Ser381Phe
ENST00000509381.1:c.*84C>T	ENSP00000421100.1:n.*84C>T
ENST00000510600.1:c.617C>T	ENSP00000424010.1:p.Ser206Phe
NM_001012509.3:c.1142C>T	NP_001012527.1:p.Ser381Phe
NM_001297417.2:c.*84C>T	NP_001284346.2:n.*84C>T
NM_016180.4:c.1142C>T	NP_057264.3:p.Ser381Phe
XM_011514051.1:c.740C>T	XP_011512353.1:p.Ser247Phe
XR_925620.1:n.1959C>T
NM_016180.5:c.1142C>T MANE Select	NP_057264.4:p.Ser381Phe
NM_001012509.4:c.1142C>T	NP_001012527.2:p.Ser381Phe
NM_001297417.3:c.*84C>T	NP_001284346.2:n.*84C>T
NM_001297417.4:c.*84C>T	NP_001284346.2:n.*84C>T