Linked Data
ClinVar Variation Id:
2801415
ClinVar RCV Id:
RCV003676097
dbSNP Id:
rs912110615
gnomAD v2:
6-10404743-C-T
gnomAD v3:
6-10404510-C-T
gnomAD v4:
6-10404510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404510C>T , CM000668.2:g.10404510C>T | GRCh38 |
| NC_000006.11:g.10404743C>T , CM000668.1:g.10404743C>T | GRCh37 |
| NC_000006.10:g.10512729C>T | NCBI36 |
| NG_016151.1:g.20055G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379608.9:c.744G>A (TFAP2A) | ENSP00000368928.3:p.Arg248= | |
| ENST00000379613.10:c.768G>A (TFAP2A) MANE Select | ENSP00000368933.5:p.Arg256= | |
| ENST00000482890.6:c.768G>A (TFAP2A) | ENSP00000418541.2:p.Arg256= | |
| ENST00000488193.7:c.*259G>A (TFAP2A) | ENSP00000419823.3:n.*259G>A | |
| ENST00000498450.3:c.333G>A (TFAP2A) | ENSP00000419961.3:p.Arg111= | |
| ENST00000319516.8:c.750G>A (TFAP2A) | ENSP00000316516.4:p.Arg250= | |
| ENST00000379608.7:c.744G>A (TFAP2A) | ENSP00000368928.3:p.Arg248= | |
| ENST00000379613.7:c.768G>A (TFAP2A) | ENSP00000368933.3:p.Arg256= | |
| ENST00000461628.5:c.85G>A (TFAP2A) | ||
| ENST00000466073.5:c.762G>A (TFAP2A) | ENSP00000417495.1:p.Arg254= | |
| ENST00000475264.5:c.476G>A (TFAP2A) | ||
| ENST00000478375.5:n.762G>A (TFAP2A) | ||
| ENST00000482890.5:c.762G>A (TFAP2A) | ENSP00000418541.1:p.Arg254= | |
| ENST00000488193.5:c.*259G>A (TFAP2A) | ENSP00000419823.1:n.*259G>A | |
| ENST00000489805.5:c.*259G>A (TFAP2A) | ENSP00000420568.1:n.*259G>A | |
| ENST00000497266.5:n.733G>A (TFAP2A) | ||
| ENST00000498450.1:c.333G>A (TFAP2A) | ENSP00000419961.1:p.Arg111= | |
| NM_001032280.2:c.744G>A (TFAP2A) | NP_001027451.1:p.Arg248= | |
| NM_001042425.1:c.750G>A (TFAP2A) | NP_001035890.1:p.Arg250= | |
| NM_003220.2:c.762G>A (TFAP2A) | NP_003211.1:p.Arg254= | |
| XM_006715175.2:c.897G>A (TFAP2A) | XP_006715238.1:p.Arg299= | |
| XM_011514833.1:c.612G>A (TFAP2A) | XP_011513135.1:p.Arg204= | |
| NR_145448.1:n.9C>T (TFAP2A-AS2) | ||
| XM_011514833.2:c.612G>A (TFAP2A) | XP_011513135.1:p.Arg204= | |
| XM_017011232.1:c.1008G>A (TFAP2A) | XP_016866721.1:p.Arg336= | |
| NM_003220.3:c.762G>A (TFAP2A) | NP_003211.1:p.Arg254= | |
| NM_001032280.3:c.744G>A (TFAP2A) | NP_001027451.1:p.Arg248= | |
| NM_001042425.2:c.750G>A (TFAP2A) | NP_001035890.1:p.Arg250= | |
| NM_001372066.1:c.768G>A (TFAP2A) MANE Select | NP_001358995.1:p.Arg256= | |
| NM_001042425.3:c.750G>A (TFAP2A) | NP_001035890.1:p.Arg250= |