Canonical Allele Identifier: CA1538195602

Gene: SLC45A2

Linked Data

• dbSNP Id: rs71804644
• gnomAD v3: 5-33963626-A-AAAC
• gnomAD v4: 5-33963626-A-AAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963641_33963643dup , CM000667.2:g.33963641_33963643dup	GRCh38
NC_000005.9:g.33963746_33963748dup , CM000667.1:g.33963746_33963748dup	GRCh37
NC_000005.8:g.33999503_33999505dup	NCBI36
NG_011691.2:g.26047_26049dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.888+62_888+64dup MANE Select	ENSP00000296589.4:n.888+62_888+64dup
ENST00000296589.8:c.888+62_888+64dup	ENSP00000296589.4:n.888+62_888+64dup
ENST00000382102.7:c.888+62_888+64dup	ENSP00000371534.3:n.888+62_888+64dup
ENST00000509381.1:c.563-9125_563-9123dup	ENSP00000421100.1:n.563-9125_563-9123dup
ENST00000510600.1:c.363+62_363+64dup	ENSP00000424010.1:n.363+62_363+64dup
NM_001012509.3:c.888+62_888+64dup	NP_001012527.1:n.888+62_888+64dup
NM_001297417.2:c.563-9125_563-9123dup	NP_001284346.2:n.563-9125_563-9123dup
NM_016180.4:c.888+62_888+64dup	NP_057264.3:n.888+62_888+64dup
XM_011514051.1:c.486+62_486+64dup	XP_011512353.1:n.486+62_486+64dup
XM_011514052.1:c.888+62_888+64dup	XP_011512354.1:n.888+62_888+64dup
XR_925620.1:n.1705+62_1705+64dup
NM_016180.5:c.888+62_888+64dup MANE Select	NP_057264.4:n.888+62_888+64dup
NM_001012509.4:c.888+62_888+64dup	NP_001012527.2:n.888+62_888+64dup
NM_001297417.3:c.563-9125_563-9123dup	NP_001284346.2:n.563-9125_563-9123dup
NM_001297417.4:c.563-9125_563-9123dup	NP_001284346.2:n.563-9125_563-9123dup