Canonical Allele Identifier: CA2734906

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs773396910
• ExAC: 3:184090750 T / C
• gnomAD v2: 3-184090750-T-C
• gnomAD v4: 3-184372962-T-C
• MyVariant Identifiers: chr3:g.184090750T>C (hg19) ; chr3:g.184372962T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372962T>C , CM000665.2:g.184372962T>C	GRCh38
NC_000003.11:g.184090750T>C , CM000665.1:g.184090750T>C	GRCh37
NC_000003.10:g.185573444T>C	NCBI36
NG_012136.1:g.10183A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1033A>G (THPO)	ENSP00000494281.2:p.Thr345Ala
ENST00000647395.1:c.613A>G (THPO) MANE Select	ENSP00000494504.1:p.Thr205Ala
ENST00000649095.1:c.1033A>G (THPO)	ENSP00000497904.1:p.Thr345Ala
ENST00000650229.1:c.596A>G (THPO)	ENSP00000497233.1:p.Asp199Gly
ENST00000204615.11:c.613A>G (THPO)	ENSP00000204615.7:p.Thr205Ala
ENST00000421442.2:c.497A>G (THPO)	ENSP00000411704.2:p.Asp166Gly
ENST00000444495.1:c.2106+228255T>C (EIF2B5)	ENSP00000409142.1:n.2106+228255T>C
ENST00000445696.6:c.601A>G (THPO)	ENSP00000410763.2:p.Thr201Ala
ENST00000477594.1:n.184A>G (THPO)
NM_000460.3:c.613A>G (THPO)	NP_000451.1:p.Thr205Ala
NM_001177597.2:c.601A>G (THPO)	NP_001171068.1:p.Thr201Ala
NM_001177598.2:c.596A>G (THPO)	NP_001171069.1:p.Asp199Gly
NM_001289997.1:c.497A>G (THPO)	NP_001276926.1:p.Asp166Gly
NM_001289998.1:c.613A>G (THPO)	NP_001276927.1:p.Thr205Ala
NM_001290003.1:c.1033A>G (THPO)	NP_001276932.1:p.Thr345Ala
NM_001290022.1:c.601A>G (THPO)	NP_001276951.1:p.Thr201Ala
NM_001290026.1:c.596A>G (THPO)	NP_001276955.1:p.Asp199Gly
NM_001290027.1:c.497A>G (THPO)	NP_001276956.1:p.Asp166Gly
NM_001290028.1:c.613A>G (THPO)	NP_001276957.1:p.Thr205Ala
XM_011513113.1:c.905A>G (THPO)	XP_011511415.1:p.Asp302Gly
NM_000460.4:c.613A>G (THPO) MANE Select	NP_000451.1:p.Thr205Ala
XM_017007107.1:c.905A>G (THPO)	XP_016862596.1:p.Asp302Gly