Canonical Allele Identifier: CA116878328

Gene: SLC45A2

Linked Data

• dbSNP Id: rs369640667
• gnomAD v2: 5-33951953-C-CAAG
• gnomAD v3: 5-33951848-C-CAAG
• gnomAD v4: 5-33951848-C-CAAG
• MyVariant Identifiers: chr5:g.33951953_33951954insAAG (hg19) ; chr5:g.33951848_33951849insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951849_33951851dup , CM000667.2:g.33951849_33951851dup	GRCh38
NC_000005.9:g.33951954_33951956dup , CM000667.1:g.33951954_33951956dup	GRCh37
NC_000005.8:g.33987711_33987713dup	NCBI36
NG_011691.2:g.37825_37827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1033-174_1033-172dup MANE Select	ENSP00000296589.4:n.1033-174_1033-172dup
ENST00000296589.8:c.1033-174_1033-172dup	ENSP00000296589.4:n.1033-174_1033-172dup
ENST00000382102.7:c.1033-174_1033-172dup	ENSP00000371534.3:n.1033-174_1033-172dup
ENST00000509381.1:c.707-174_707-172dup	ENSP00000421100.1:n.707-174_707-172dup
ENST00000510600.1:c.508-174_508-172dup	ENSP00000424010.1:n.508-174_508-172dup
NM_001012509.3:c.1033-174_1033-172dup	NP_001012527.1:n.1033-174_1033-172dup
NM_001297417.2:c.707-174_707-172dup	NP_001284346.2:n.707-174_707-172dup
NM_016180.4:c.1033-174_1033-172dup	NP_057264.3:n.1033-174_1033-172dup
XM_011514051.1:c.631-174_631-172dup	XP_011512353.1:n.631-174_631-172dup
XR_925620.1:n.1850-174_1850-172dup
NM_016180.5:c.1033-174_1033-172dup MANE Select	NP_057264.4:n.1033-174_1033-172dup
NM_001012509.4:c.1033-174_1033-172dup	NP_001012527.2:n.1033-174_1033-172dup
NM_001297417.3:c.707-174_707-172dup	NP_001284346.2:n.707-174_707-172dup
NM_001297417.4:c.707-174_707-172dup	NP_001284346.2:n.707-174_707-172dup