Linked Data
ClinVar Variation Id:
1595534
dbSNP Id:
rs369302647
ExAC:
6:10404851 G / A
gnomAD v2:
6-10404851-G-A
gnomAD v3:
6-10404618-G-A
gnomAD v4:
6-10404618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404618G>A , CM000668.2:g.10404618G>A | GRCh38 |
| NC_000006.11:g.10404851G>A , CM000668.1:g.10404851G>A | GRCh37 |
| NC_000006.10:g.10512837G>A | NCBI36 |
| NG_016151.1:g.19947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379608.9:c.636C>T (TFAP2A) | ENSP00000368928.3:p.Leu212= | |
| ENST00000379613.10:c.660C>T (TFAP2A) MANE Select | ENSP00000368933.5:p.Leu220= | |
| ENST00000482890.6:c.660C>T (TFAP2A) | ENSP00000418541.2:p.Leu220= | |
| ENST00000488193.7:c.*151C>T (TFAP2A) | ENSP00000419823.3:n.*151C>T | |
| ENST00000498450.3:c.225C>T (TFAP2A) | ENSP00000419961.3:p.Leu75= | |
| ENST00000319516.8:c.642C>T (TFAP2A) | ENSP00000316516.4:p.Leu214= | |
| ENST00000379608.7:c.636C>T (TFAP2A) | ENSP00000368928.3:p.Leu212= | |
| ENST00000379613.7:c.660C>T (TFAP2A) | ENSP00000368933.3:p.Leu220= | |
| ENST00000466073.5:c.654C>T (TFAP2A) | ENSP00000417495.1:p.Leu218= | |
| ENST00000475264.5:c.368C>T (TFAP2A) | ||
| ENST00000478375.5:n.654C>T (TFAP2A) | ||
| ENST00000482890.5:c.654C>T (TFAP2A) | ENSP00000418541.1:p.Leu218= | |
| ENST00000488193.5:c.*151C>T (TFAP2A) | ENSP00000419823.1:n.*151C>T | |
| ENST00000489805.5:c.*151C>T (TFAP2A) | ENSP00000420568.1:n.*151C>T | |
| ENST00000497266.5:n.625C>T (TFAP2A) | ||
| ENST00000498450.1:c.225C>T (TFAP2A) | ENSP00000419961.1:p.Leu75= | |
| NM_001032280.2:c.636C>T (TFAP2A) | NP_001027451.1:p.Leu212= | |
| NM_001042425.1:c.642C>T (TFAP2A) | NP_001035890.1:p.Leu214= | |
| NM_003220.2:c.654C>T (TFAP2A) | NP_003211.1:p.Leu218= | |
| XM_006715175.2:c.789C>T (TFAP2A) | XP_006715238.1:p.Leu263= | |
| XM_011514833.1:c.504C>T (TFAP2A) | XP_011513135.1:p.Leu168= | |
| NR_145448.1:n.117G>A (TFAP2A-AS2) | ||
| XM_011514833.2:c.504C>T (TFAP2A) | XP_011513135.1:p.Leu168= | |
| XM_017011232.1:c.900C>T (TFAP2A) | XP_016866721.1:p.Leu300= | |
| NM_003220.3:c.654C>T (TFAP2A) | NP_003211.1:p.Leu218= | |
| NM_001032280.3:c.636C>T (TFAP2A) | NP_001027451.1:p.Leu212= | |
| NM_001042425.2:c.642C>T (TFAP2A) | NP_001035890.1:p.Leu214= | |
| NM_001372066.1:c.660C>T (TFAP2A) MANE Select | NP_001358995.1:p.Leu220= | |
| NM_001042425.3:c.642C>T (TFAP2A) | NP_001035890.1:p.Leu214= |