Canonical Allele Identifier: CA2734796

Gene: THPO EIF2B5

Linked Data

• ClinVar Variation Id: 344369
• ClinVar RCV Id: RCV000295508 ; RCV001723942
• dbSNP Id: rs6141
• ExAC: 3:184090266 C / T
• gnomAD v2: 3-184090266-C-T
• gnomAD v3: 3-184372478-C-T
• gnomAD v4: 3-184372478-C-T
• MyVariant Identifiers: chr3:g.184090266C>T (hg19) ; chr3:g.184372478C>T (hg38)
• PubMed: PMID:11257273

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372478C>T , CM000665.2:g.184372478C>T	GRCh38
NC_000003.11:g.184090266C>T , CM000665.1:g.184090266C>T	GRCh37
NC_000003.10:g.185572960C>T	NCBI36
NG_012136.1:g.10667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647395.1:c.*35G>A (THPO) MANE Select	ENSP00000494504.1:n.*35G>A
ENST00000649095.1:c.*35G>A (THPO)	ENSP00000497904.1:n.*35G>A
ENST00000204615.11:c.*35G>A (THPO)	ENSP00000204615.7:n.*35G>A
ENST00000421442.2:c.981G>A (THPO)	ENSP00000411704.2:n.981G>A
ENST00000444495.1:c.2106+227771C>T (EIF2B5)	ENSP00000409142.1:n.2106+227771C>T
ENST00000445696.6:c.*35G>A (THPO)	ENSP00000410763.2:n.*35G>A
NM_000460.3:c.*35G>A (THPO)	NP_000451.1:n.*35G>A
NM_001177597.2:c.*35G>A (THPO)	NP_001171068.1:n.*35G>A
NM_001177598.2:c.*120G>A (THPO)	NP_001171069.1:n.*120G>A
NM_001289997.1:c.*120G>A (THPO)	NP_001276926.1:n.*120G>A
NM_001289998.1:c.*35G>A (THPO)	NP_001276927.1:n.*35G>A
NM_001290003.1:c.*35G>A (THPO)	NP_001276932.1:n.*35G>A
NM_001290022.1:c.*35G>A (THPO)	NP_001276951.1:n.*35G>A
NM_001290026.1:c.*120G>A (THPO)	NP_001276955.1:n.*120G>A
NM_001290027.1:c.*120G>A (THPO)	NP_001276956.1:n.*120G>A
NM_001290028.1:c.*35G>A (THPO)	NP_001276957.1:n.*35G>A
XM_011513113.1:c.*120G>A (THPO)	XP_011511415.1:n.*120G>A
NM_000460.4:c.*35G>A (THPO) MANE Select	NP_000451.1:n.*35G>A
XM_017007107.1:c.*120G>A (THPO)	XP_016862596.1:n.*120G>A