Canonical Allele Identifier: CA355461816

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs774260252
• gnomAD v2: 3-184090631-G-C
• gnomAD v4: 3-184372843-G-C
• MyVariant Identifiers: chr3:g.184090631G>C (hg19) ; chr3:g.184372843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372843G>C , CM000665.2:g.184372843G>C	GRCh38
NC_000003.11:g.184090631G>C , CM000665.1:g.184090631G>C	GRCh37
NC_000003.10:g.185573325G>C	NCBI36
NG_012136.1:g.10302C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000645603.2:c.1152C>G (THPO)	ENSP00000494281.2:p.Pro384=
ENST00000647395.1:c.732C>G (THPO) MANE Select	ENSP00000494504.1:p.Pro244=
ENST00000649095.1:c.1152C>G (THPO)	ENSP00000497904.1:p.Pro384=
ENST00000650229.1:c.715C>G (THPO)	ENSP00000497233.1:p.Arg239Gly
ENST00000204615.11:c.732C>G (THPO)	ENSP00000204615.7:p.Pro244=
ENST00000421442.2:c.616C>G (THPO)	ENSP00000411704.2:p.Arg206Gly
ENST00000444495.1:c.2106+228136G>C (EIF2B5)	ENSP00000409142.1:n.2106+228136G>C
ENST00000445696.6:c.720C>G (THPO)	ENSP00000410763.2:p.Pro240=
NM_000460.3:c.732C>G (THPO)	NP_000451.1:p.Pro244=
NM_001177597.2:c.720C>G (THPO)	NP_001171068.1:p.Pro240=
NM_001177598.2:c.715C>G (THPO)	NP_001171069.1:p.Arg239Gly
NM_001289997.1:c.616C>G (THPO)	NP_001276926.1:p.Arg206Gly
NM_001289998.1:c.732C>G (THPO)	NP_001276927.1:p.Pro244=
NM_001290003.1:c.1152C>G (THPO)	NP_001276932.1:p.Pro384=
NM_001290022.1:c.720C>G (THPO)	NP_001276951.1:p.Pro240=
NM_001290026.1:c.715C>G (THPO)	NP_001276955.1:p.Arg239Gly
NM_001290027.1:c.616C>G (THPO)	NP_001276956.1:p.Arg206Gly
NM_001290028.1:c.732C>G (THPO)	NP_001276957.1:p.Pro244=
XM_011513113.1:c.1024C>G (THPO)	XP_011511415.1:p.Arg342Gly
NM_000460.4:c.732C>G (THPO) MANE Select	NP_000451.1:p.Pro244=
XM_017007107.1:c.1024C>G (THPO)	XP_016862596.1:p.Arg342Gly