Canonical Allele Identifier: CA2734928

Gene: THPO EIF2B5

Linked Data

• ClinVar Variation Id: 1939651
• ClinVar RCV Id: RCV002666921
• dbSNP Id: rs774590696
• ExAC: 3:184090859 C / A
• gnomAD v2: 3-184090859-C-A
• gnomAD v4: 3-184373071-C-A
• MyVariant Identifiers: chr3:g.184090859C>A (hg19) ; chr3:g.184373071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373071C>A , CM000665.2:g.184373071C>A	GRCh38
NC_000003.11:g.184090859C>A , CM000665.1:g.184090859C>A	GRCh37
NC_000003.10:g.185573553C>A	NCBI36
NG_012136.1:g.10074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.924G>T (THPO)	ENSP00000494281.2:p.Gly308=
ENST00000647395.1:c.504G>T (THPO) MANE Select	ENSP00000494504.1:p.Gly168=
ENST00000649095.1:c.924G>T (THPO)	ENSP00000497904.1:p.Gly308=
ENST00000650229.1:c.487G>T (THPO)	ENSP00000497233.1:p.Val163Phe
ENST00000204615.11:c.504G>T (THPO)	ENSP00000204615.7:p.Gly168=
ENST00000421442.2:c.477+27G>T (THPO)	ENSP00000411704.2:n.477+27G>T
ENST00000444495.1:c.2106+228364C>A (EIF2B5)	ENSP00000409142.1:n.2106+228364C>A
ENST00000445696.6:c.492G>T (THPO)	ENSP00000410763.2:p.Gly164=
ENST00000477594.1:n.164+27G>T (THPO)
NM_000460.3:c.504G>T (THPO)	NP_000451.1:p.Gly168=
NM_001177597.2:c.492G>T (THPO)	NP_001171068.1:p.Gly164=
NM_001177598.2:c.487G>T (THPO)	NP_001171069.1:p.Val163Phe
NM_001289997.1:c.477+27G>T (THPO)	NP_001276926.1:n.477+27G>T
NM_001289998.1:c.504G>T (THPO)	NP_001276927.1:p.Gly168=
NM_001290003.1:c.924G>T (THPO)	NP_001276932.1:p.Gly308=
NM_001290022.1:c.492G>T (THPO)	NP_001276951.1:p.Gly164=
NM_001290026.1:c.487G>T (THPO)	NP_001276955.1:p.Val163Phe
NM_001290027.1:c.477+27G>T (THPO)	NP_001276956.1:n.477+27G>T
NM_001290028.1:c.504G>T (THPO)	NP_001276957.1:p.Gly168=
XM_011513113.1:c.885+27G>T (THPO)	XP_011511415.1:n.885+27G>T
NM_000460.4:c.504G>T (THPO) MANE Select	NP_000451.1:p.Gly168=
XM_017007107.1:c.885+27G>T (THPO)	XP_016862596.1:n.885+27G>T