Canonical Allele Identifier: CA345740421

Gene: TRAPPC12

Linked Data

• ClinVar Variation Id: 3068100
• ClinVar RCV Id: RCV003991780
• MyVariant Identifiers: chr2:g.3392058G>T (hg19) ; chr2:g.3388287G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3388287G>T , CM000664.2:g.3388287G>T	GRCh38
NC_000002.11:g.3392058G>T , CM000664.1:g.3392058G>T	GRCh37
NC_000002.10:g.3371065G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324266.10:c.664G>T MANE Select	ENSP00000324318.5:p.Asp222Tyr
ENST00000324266.9:c.664G>T	ENSP00000324318.5:p.Asp222Tyr
ENST00000382110.6:c.664G>T	ENSP00000371544.2:p.Asp222Tyr
ENST00000411973.3:c.161G>T
ENST00000482645.1:n.825G>T
NM_016030.5:c.664G>T	NP_057114.5:p.Asp222Tyr
XM_005264693.2:c.664G>T	XP_005264750.1:p.Asp222Tyr
XM_011510350.1:c.664G>T	XP_011508652.1:p.Asp222Tyr
XM_011510351.1:c.664G>T	XP_011508653.1:p.Asp222Tyr
XM_011510352.1:c.664G>T	XP_011508654.1:p.Asp222Tyr
XM_011510353.1:c.664G>T	XP_011508655.1:p.Asp222Tyr
XM_011510354.1:c.664G>T	XP_011508656.1:p.Asp222Tyr
XR_426956.2:n.862G>T
XR_922679.1:n.873G>T
NM_001321102.1:c.664G>T	NP_001308031.1:p.Asp222Tyr
XM_011510350.2:c.664G>T	XP_011508652.1:p.Asp222Tyr
XM_011510352.2:c.664G>T	XP_011508654.1:p.Asp222Tyr
XM_011510353.2:c.664G>T	XP_011508655.1:p.Asp222Tyr
XM_011510354.2:c.664G>T	XP_011508656.1:p.Asp222Tyr
XM_017004257.1:c.664G>T	XP_016859746.1:p.Asp222Tyr
XR_001738761.1:n.1300G>T
XR_001738762.1:n.1300G>T
XR_426956.3:n.1300G>T
NM_016030.6:c.664G>T MANE Select	NP_057114.5:p.Asp222Tyr
NM_001321102.2:c.664G>T	NP_001308031.1:p.Asp222Tyr