Linked Data
ClinVar Variation Id:
2757042
ClinVar RCV Id:
RCV003567064
dbSNP Id:
rs146735451
ExAC:
6:10404957 G / T
gnomAD v3:
6-10404724-G-T
gnomAD v4:
6-10404724-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404724G>T , CM000668.2:g.10404724G>T | GRCh38 |
| NC_000006.11:g.10404957G>T , CM000668.1:g.10404957G>T | GRCh37 |
| NC_000006.10:g.10512943G>T | NCBI36 |
| NG_016151.1:g.19841C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379608.9:c.530C>A (TFAP2A) | ENSP00000368928.3:p.Ser177Tyr | |
| ENST00000379613.10:c.554C>A (TFAP2A) MANE Select | ENSP00000368933.5:p.Ser185Tyr | |
| ENST00000482890.6:c.554C>A (TFAP2A) | ENSP00000418541.2:p.Ser185Tyr | |
| ENST00000488193.7:c.*45C>A (TFAP2A) | ENSP00000419823.3:n.*45C>A | |
| ENST00000498450.3:c.119C>A (TFAP2A) | ENSP00000419961.3:p.Ser40Tyr | |
| ENST00000319516.8:c.536C>A (TFAP2A) | ENSP00000316516.4:p.Ser179Tyr | |
| ENST00000379608.7:c.530C>A (TFAP2A) | ENSP00000368928.3:p.Ser177Tyr | |
| ENST00000379613.7:c.554C>A (TFAP2A) | ENSP00000368933.3:p.Ser185Tyr | |
| ENST00000466073.5:c.548C>A (TFAP2A) | ENSP00000417495.1:p.Ser183Tyr | |
| ENST00000473652.1:n.602C>A (TFAP2A) | ||
| ENST00000475264.5:c.262C>A (TFAP2A) | ||
| ENST00000478375.5:n.548C>A (TFAP2A) | ||
| ENST00000482890.5:c.548C>A (TFAP2A) | ENSP00000418541.1:p.Ser183Tyr | |
| ENST00000488193.5:c.*45C>A (TFAP2A) | ENSP00000419823.1:n.*45C>A | |
| ENST00000489805.5:c.*45C>A (TFAP2A) | ENSP00000420568.1:n.*45C>A | |
| ENST00000490875.5:n.790C>A (TFAP2A) | ||
| ENST00000497266.5:n.519C>A (TFAP2A) | ||
| ENST00000498450.1:c.119C>A (TFAP2A) | ENSP00000419961.1:p.Ser40Tyr | |
| NM_001032280.2:c.530C>A (TFAP2A) | NP_001027451.1:p.Ser177Tyr | |
| NM_001042425.1:c.536C>A (TFAP2A) | NP_001035890.1:p.Ser179Tyr | |
| NM_003220.2:c.548C>A (TFAP2A) | NP_003211.1:p.Ser183Tyr | |
| XM_006715175.2:c.683C>A (TFAP2A) | XP_006715238.1:p.Ser228Tyr | |
| XM_011514833.1:c.398C>A (TFAP2A) | XP_011513135.1:p.Ser133Tyr | |
| NR_145448.1:n.223G>T (TFAP2A-AS2) | ||
| XM_011514833.2:c.398C>A (TFAP2A) | XP_011513135.1:p.Ser133Tyr | |
| XM_017011232.1:c.794C>A (TFAP2A) | XP_016866721.1:p.Ser265Tyr | |
| NM_003220.3:c.548C>A (TFAP2A) | NP_003211.1:p.Ser183Tyr | |
| NM_001032280.3:c.530C>A (TFAP2A) | NP_001027451.1:p.Ser177Tyr | |
| NM_001042425.2:c.536C>A (TFAP2A) | NP_001035890.1:p.Ser179Tyr | |
| NM_001372066.1:c.554C>A (TFAP2A) MANE Select | NP_001358995.1:p.Ser185Tyr | |
| NM_001042425.3:c.536C>A (TFAP2A) | NP_001035890.1:p.Ser179Tyr |