Canonical Allele Identifier: CA88912514

Gene: THPO EIF2B5

Linked Data

• ClinVar Variation Id: 2896607
• ClinVar RCV Id: RCV003730992
• dbSNP Id: rs746926877
• gnomAD v2: 3-184090840-G-A
• gnomAD v3: 3-184373052-G-A
• gnomAD v4: 3-184373052-G-A
• COSMIC: COSM2156478
• MyVariant Identifiers: chr3:g.184090840G>A (hg19) ; chr3:g.184090840_184090841delinsAC (hg19) ; chr3:g.184373052G>A (hg38) ; chr3:g.184373052_184373053delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373052G>A , CM000665.2:g.184373052G>A	GRCh38
NC_000003.11:g.184090840G>A , CM000665.1:g.184090840G>A	GRCh37
NC_000003.10:g.185573534G>A	NCBI36
NG_012136.1:g.10093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.943C>T (THPO)	ENSP00000494281.2:p.Arg315Trp
ENST00000647395.1:c.523C>T (THPO) MANE Select	ENSP00000494504.1:p.Arg175Trp
ENST00000649095.1:c.943C>T (THPO)	ENSP00000497904.1:p.Arg315Trp
ENST00000650229.1:c.506C>T (THPO)	ENSP00000497233.1:p.Ala169Val
ENST00000204615.11:c.523C>T (THPO)	ENSP00000204615.7:p.Arg175Trp
ENST00000421442.2:c.477+46C>T (THPO)	ENSP00000411704.2:n.477+46C>T
ENST00000444495.1:c.2106+228345G>A (EIF2B5)	ENSP00000409142.1:n.2106+228345G>A
ENST00000445696.6:c.511C>T (THPO)	ENSP00000410763.2:p.Arg171Trp
ENST00000477594.1:n.164+46C>T (THPO)
NM_000460.3:c.523C>T (THPO)	NP_000451.1:p.Arg175Trp
NM_001177597.2:c.511C>T (THPO)	NP_001171068.1:p.Arg171Trp
NM_001177598.2:c.506C>T (THPO)	NP_001171069.1:p.Ala169Val
NM_001289997.1:c.477+46C>T (THPO)	NP_001276926.1:n.477+46C>T
NM_001289998.1:c.523C>T (THPO)	NP_001276927.1:p.Arg175Trp
NM_001290003.1:c.943C>T (THPO)	NP_001276932.1:p.Arg315Trp
NM_001290022.1:c.511C>T (THPO)	NP_001276951.1:p.Arg171Trp
NM_001290026.1:c.506C>T (THPO)	NP_001276955.1:p.Ala169Val
NM_001290027.1:c.477+46C>T (THPO)	NP_001276956.1:n.477+46C>T
NM_001290028.1:c.523C>T (THPO)	NP_001276957.1:p.Arg175Trp
XM_011513113.1:c.885+46C>T (THPO)	XP_011511415.1:n.885+46C>T
NM_000460.4:c.523C>T (THPO) MANE Select	NP_000451.1:p.Arg175Trp
XM_017007107.1:c.885+46C>T (THPO)	XP_016862596.1:n.885+46C>T