Canonical Allele Identifier: CA355462292

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs2108618349
• MyVariant Identifiers: chr3:g.184090811G>C (hg19) ; chr3:g.184373023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373023G>C , CM000665.2:g.184373023G>C	GRCh38
NC_000003.11:g.184090811G>C , CM000665.1:g.184090811G>C	GRCh37
NC_000003.10:g.185573505G>C	NCBI36
NG_012136.1:g.10122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.972C>G (THPO)	ENSP00000494281.2:p.Ser324Arg
ENST00000647395.1:c.552C>G (THPO) MANE Select	ENSP00000494504.1:p.Ser184Arg
ENST00000649095.1:c.972C>G (THPO)	ENSP00000497904.1:p.Ser324Arg
ENST00000650229.1:c.535C>G (THPO)	ENSP00000497233.1:p.Gln179Glu
ENST00000204615.11:c.552C>G (THPO)	ENSP00000204615.7:p.Ser184Arg
ENST00000421442.2:c.478-42C>G (THPO)	ENSP00000411704.2:n.478-42C>G
ENST00000444495.1:c.2106+228316G>C (EIF2B5)	ENSP00000409142.1:n.2106+228316G>C
ENST00000445696.6:c.540C>G (THPO)	ENSP00000410763.2:p.Ser180Arg
ENST00000477594.1:n.165-42C>G (THPO)
NM_000460.3:c.552C>G (THPO)	NP_000451.1:p.Ser184Arg
NM_001177597.2:c.540C>G (THPO)	NP_001171068.1:p.Ser180Arg
NM_001177598.2:c.535C>G (THPO)	NP_001171069.1:p.Gln179Glu
NM_001289997.1:c.478-42C>G (THPO)	NP_001276926.1:n.478-42C>G
NM_001289998.1:c.552C>G (THPO)	NP_001276927.1:p.Ser184Arg
NM_001290003.1:c.972C>G (THPO)	NP_001276932.1:p.Ser324Arg
NM_001290022.1:c.540C>G (THPO)	NP_001276951.1:p.Ser180Arg
NM_001290026.1:c.535C>G (THPO)	NP_001276955.1:p.Gln179Glu
NM_001290027.1:c.478-42C>G (THPO)	NP_001276956.1:n.478-42C>G
NM_001290028.1:c.552C>G (THPO)	NP_001276957.1:p.Ser184Arg
XM_011513113.1:c.886-42C>G (THPO)	XP_011511415.1:n.886-42C>G
NM_000460.4:c.552C>G (THPO) MANE Select	NP_000451.1:p.Ser184Arg
XM_017007107.1:c.886-42C>G (THPO)	XP_016862596.1:n.886-42C>G