Canonical Allele Identifier: CA558969306

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1561375657
• gnomAD v2: 5-33984604-T-TAA
• MyVariant Identifiers: chr5:g.33984604_33984605insAA (hg19) ; chr5:g.33984499_33984500insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984500_33984501insAA , CM000667.2:g.33984500_33984501insAA	GRCh38
NC_000005.9:g.33984605_33984606insAA , CM000667.1:g.33984605_33984606insAA	GRCh37
NC_000005.8:g.34020362_34020363insAA	NCBI36
NG_011691.2:g.5176_5177insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.84_85insTT MANE Select	ENSP00000296589.4:p.Lys29LeufsTer29
ENST00000296589.8:c.84_85insTT	ENSP00000296589.4:p.Lys29LeufsTer29
ENST00000382102.7:c.84_85insTT	ENSP00000371534.3:p.Lys29LeufsTer29
ENST00000505056.1:n.63_64insTT
ENST00000509381.1:c.84_85insTT	ENSP00000421100.1:p.Lys29LeufsTer29
NM_001012509.3:c.84_85insTT	NP_001012527.1:p.Lys29LeufsTer29
NM_001297417.2:c.84_85insTT	NP_001284346.2:p.Lys29LeufsTer29
NM_016180.4:c.84_85insTT	NP_057264.3:p.Lys29LeufsTer29
XM_011514052.1:c.84_85insTT	XP_011512354.1:p.Lys29LeufsTer29
XR_925620.1:n.645_646insTT
NM_016180.5:c.84_85insTT MANE Select	NP_057264.4:p.Lys29LeufsTer29
NM_001012509.4:c.84_85insTT	NP_001012527.2:p.Lys29LeufsTer29
NM_001297417.3:c.84_85insTT	NP_001284346.2:p.Lys29LeufsTer29
NM_001297417.4:c.84_85insTT	NP_001284346.2:p.Lys29LeufsTer29