Canonical Allele Identifier: CA1515142
Gene: TRAPPC12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.3388304T>A
GRCh37 chr2:g.3392075T>A
Revel Score:
ENST00000382110 0.267
ENST00000304601 0.267
ENST00000324266 (MANE Select) 0.267
gnomAD v2:
2:3392075 T / A
gnomAD v3:
2:3388304 T / A
gnomAD v4:
chr2-3388304-T-A
Joint Max Group AF 0.00010142 (SAS)
Genomes Max Group AF 0.00028313 (SAS)
Exomes Max Group AF 0.00007183 (SAS)
dbSNP:
10865541
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3388304T>A , CM000664.2:g.3388304T>A GRCh38
NC_000002.11:g.3392075T>A , CM000664.1:g.3392075T>A GRCh37
NC_000002.10:g.3371082T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324266.10:c.681T>A MANE Select ENSP00000324318.5:p.Phe227Leu
ENST00000324266.9:c.681T>A ENSP00000324318.5:p.Phe227Leu
ENST00000382110.6:c.681T>A ENSP00000371544.2:p.Phe227Leu
ENST00000411973.3:c.178T>A
ENST00000482645.1:n.842T>A
NM_016030.5:c.681T>A NP_057114.5:p.Phe227Leu
XM_005264693.2:c.681T>A XP_005264750.1:p.Phe227Leu
XM_011510350.1:c.681T>A XP_011508652.1:p.Phe227Leu
XM_011510351.1:c.681T>A XP_011508653.1:p.Phe227Leu
XM_011510352.1:c.681T>A XP_011508654.1:p.Phe227Leu
XM_011510353.1:c.681T>A XP_011508655.1:p.Phe227Leu
XM_011510354.1:c.681T>A XP_011508656.1:p.Phe227Leu
XR_426956.2:n.879T>A
XR_922679.1:n.890T>A
NM_001321102.1:c.681T>A NP_001308031.1:p.Phe227Leu
XM_011510350.2:c.681T>A XP_011508652.1:p.Phe227Leu
XM_011510352.2:c.681T>A XP_011508654.1:p.Phe227Leu
XM_011510353.2:c.681T>A XP_011508655.1:p.Phe227Leu
XM_011510354.2:c.681T>A XP_011508656.1:p.Phe227Leu
XM_017004257.1:c.681T>A XP_016859746.1:p.Phe227Leu
XR_001738761.1:n.1317T>A
XR_001738762.1:n.1317T>A
XR_426956.3:n.1317T>A
NM_016030.6:c.681T>A MANE Select NP_057114.5:p.Phe227Leu
NM_001321102.2:c.681T>A NP_001308031.1:p.Phe227Leu
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