Canonical Allele Identifier: CA359390201

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1310846892
• gnomAD v2: 5-33951780-A-C
• gnomAD v4: 5-33951675-A-C
• MyVariant Identifiers: chr5:g.33951780A>C (hg19) ; chr5:g.33951675A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951675A>C , CM000667.2:g.33951675A>C	GRCh38
NC_000005.9:g.33951780A>C , CM000667.1:g.33951780A>C	GRCh37
NC_000005.8:g.33987537A>C	NCBI36
NG_011691.2:g.38001T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1035T>G MANE Select	ENSP00000296589.4:p.Ile345Met
ENST00000296589.8:c.1035T>G	ENSP00000296589.4:p.Ile345Met
ENST00000382102.7:c.1035T>G	ENSP00000371534.3:p.Ile345Met
ENST00000509381.1:c.709T>G	ENSP00000421100.1:p.Cys237Gly
ENST00000510600.1:c.510T>G	ENSP00000424010.1:p.Ile170Met
NM_001012509.3:c.1035T>G	NP_001012527.1:p.Ile345Met
NM_001297417.2:c.709T>G	NP_001284346.2:p.Cys237Gly
NM_016180.4:c.1035T>G	NP_057264.3:p.Ile345Met
XM_011514051.1:c.633T>G	XP_011512353.1:p.Ile211Met
XR_925620.1:n.1852T>G
NM_016180.5:c.1035T>G MANE Select	NP_057264.4:p.Ile345Met
NM_001012509.4:c.1035T>G	NP_001012527.2:p.Ile345Met
NM_001297417.3:c.709T>G	NP_001284346.2:p.Cys237Gly
NM_001297417.4:c.709T>G	NP_001284346.2:p.Cys237Gly