Linked Data
ClinVar Variation Id:
2221787
ClinVar RCV Id:
RCV002683223
dbSNP Id:
rs764751482
ExAC:
6:10404925 G / A
gnomAD v2:
6-10404925-G-A
gnomAD v4:
6-10404692-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404692G>A , CM000668.2:g.10404692G>A | GRCh38 |
| NC_000006.11:g.10404925G>A , CM000668.1:g.10404925G>A | GRCh37 |
| NC_000006.10:g.10512911G>A | NCBI36 |
| NG_016151.1:g.19873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379608.9:c.562C>T (TFAP2A) | ENSP00000368928.3:p.Pro188Ser | |
| ENST00000379613.10:c.586C>T (TFAP2A) MANE Select | ENSP00000368933.5:p.Pro196Ser | |
| ENST00000482890.6:c.586C>T (TFAP2A) | ENSP00000418541.2:p.Pro196Ser | |
| ENST00000488193.7:c.*77C>T (TFAP2A) | ENSP00000419823.3:n.*77C>T | |
| ENST00000498450.3:c.151C>T (TFAP2A) | ENSP00000419961.3:p.Pro51Ser | |
| ENST00000319516.8:c.568C>T (TFAP2A) | ENSP00000316516.4:p.Pro190Ser | |
| ENST00000379608.7:c.562C>T (TFAP2A) | ENSP00000368928.3:p.Pro188Ser | |
| ENST00000379613.7:c.586C>T (TFAP2A) | ENSP00000368933.3:p.Pro196Ser | |
| ENST00000466073.5:c.580C>T (TFAP2A) | ENSP00000417495.1:p.Pro194Ser | |
| ENST00000473652.1:n.634C>T (TFAP2A) | ||
| ENST00000475264.5:c.294C>T (TFAP2A) | ||
| ENST00000478375.5:n.580C>T (TFAP2A) | ||
| ENST00000482890.5:c.580C>T (TFAP2A) | ENSP00000418541.1:p.Pro194Ser | |
| ENST00000488193.5:c.*77C>T (TFAP2A) | ENSP00000419823.1:n.*77C>T | |
| ENST00000489805.5:c.*77C>T (TFAP2A) | ENSP00000420568.1:n.*77C>T | |
| ENST00000490875.5:n.822C>T (TFAP2A) | ||
| ENST00000497266.5:n.551C>T (TFAP2A) | ||
| ENST00000498450.1:c.151C>T (TFAP2A) | ENSP00000419961.1:p.Pro51Ser | |
| NM_001032280.2:c.562C>T (TFAP2A) | NP_001027451.1:p.Pro188Ser | |
| NM_001042425.1:c.568C>T (TFAP2A) | NP_001035890.1:p.Pro190Ser | |
| NM_003220.2:c.580C>T (TFAP2A) | NP_003211.1:p.Pro194Ser | |
| XM_006715175.2:c.715C>T (TFAP2A) | XP_006715238.1:p.Pro239Ser | |
| XM_011514833.1:c.430C>T (TFAP2A) | XP_011513135.1:p.Pro144Ser | |
| NR_145448.1:n.191G>A (TFAP2A-AS2) | ||
| XM_011514833.2:c.430C>T (TFAP2A) | XP_011513135.1:p.Pro144Ser | |
| XM_017011232.1:c.826C>T (TFAP2A) | XP_016866721.1:p.Pro276Ser | |
| NM_003220.3:c.580C>T (TFAP2A) | NP_003211.1:p.Pro194Ser | |
| NM_001032280.3:c.562C>T (TFAP2A) | NP_001027451.1:p.Pro188Ser | |
| NM_001042425.2:c.568C>T (TFAP2A) | NP_001035890.1:p.Pro190Ser | |
| NM_001372066.1:c.586C>T (TFAP2A) MANE Select | NP_001358995.1:p.Pro196Ser | |
| NM_001042425.3:c.568C>T (TFAP2A) | NP_001035890.1:p.Pro190Ser |