Linked Data
ClinVar Variation Id:
192351
ClinVar RCV Id:
RCV000172981
dbSNP Id:
rs793888541
PubMed:
PMID:25590586
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404631A>T , CM000668.2:g.10404631A>T | GRCh38 |
| NC_000006.11:g.10404864A>T , CM000668.1:g.10404864A>T | GRCh37 |
| NC_000006.10:g.10512850A>T | NCBI36 |
| NG_016151.1:g.19934T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379608.9:c.623T>A (TFAP2A) | ENSP00000368928.3:p.Val208Asp | |
| ENST00000379613.10:c.647T>A (TFAP2A) MANE Select | ENSP00000368933.5:p.Val216Asp | |
| ENST00000482890.6:c.647T>A (TFAP2A) | ENSP00000418541.2:p.Val216Asp | |
| ENST00000488193.7:c.*138T>A (TFAP2A) | ENSP00000419823.3:n.*138T>A | |
| ENST00000498450.3:c.212T>A (TFAP2A) | ENSP00000419961.3:p.Val71Asp | |
| ENST00000319516.8:c.629T>A (TFAP2A) | ENSP00000316516.4:p.Val210Asp | |
| ENST00000379608.7:c.623T>A (TFAP2A) | ENSP00000368928.3:p.Val208Asp | |
| ENST00000379613.7:c.647T>A (TFAP2A) | ENSP00000368933.3:p.Val216Asp | |
| ENST00000466073.5:c.641T>A (TFAP2A) | ENSP00000417495.1:p.Val214Asp | |
| ENST00000475264.5:c.355T>A (TFAP2A) | ||
| ENST00000478375.5:n.641T>A (TFAP2A) | ||
| ENST00000482890.5:c.641T>A (TFAP2A) | ENSP00000418541.1:p.Val214Asp | |
| ENST00000488193.5:c.*138T>A (TFAP2A) | ENSP00000419823.1:n.*138T>A | |
| ENST00000489805.5:c.*138T>A (TFAP2A) | ENSP00000420568.1:n.*138T>A | |
| ENST00000490875.5:n.883T>A (TFAP2A) | ||
| ENST00000497266.5:n.612T>A (TFAP2A) | ||
| ENST00000498450.1:c.212T>A (TFAP2A) | ENSP00000419961.1:p.Val71Asp | |
| NM_001032280.2:c.623T>A (TFAP2A) | NP_001027451.1:p.Val208Asp | |
| NM_001042425.1:c.629T>A (TFAP2A) | NP_001035890.1:p.Val210Asp | |
| NM_003220.2:c.641T>A (TFAP2A) | NP_003211.1:p.Val214Asp | |
| XM_006715175.2:c.776T>A (TFAP2A) | XP_006715238.1:p.Val259Asp | |
| XM_011514833.1:c.491T>A (TFAP2A) | XP_011513135.1:p.Val164Asp | |
| NR_145448.1:n.130A>T (TFAP2A-AS2) | ||
| XM_011514833.2:c.491T>A (TFAP2A) | XP_011513135.1:p.Val164Asp | |
| XM_017011232.1:c.887T>A (TFAP2A) | XP_016866721.1:p.Val296Asp | |
| NM_003220.3:c.641T>A (TFAP2A) | NP_003211.1:p.Val214Asp | |
| NM_001032280.3:c.623T>A (TFAP2A) | NP_001027451.1:p.Val208Asp | |
| NM_001042425.2:c.629T>A (TFAP2A) | NP_001035890.1:p.Val210Asp | |
| NM_001372066.1:c.647T>A (TFAP2A) MANE Select | NP_001358995.1:p.Val216Asp | |
| NM_001042425.3:c.629T>A (TFAP2A) | NP_001035890.1:p.Val210Asp |