Linked Data
ClinVar Variation Id:
2902443
ClinVar RCV Id:
RCV003733740
dbSNP Id:
rs1290180108
gnomAD v3:
6-10404540-G-A
gnomAD v4:
6-10404540-G-A
MyVariant Identifiers:
chr6:g.10404773G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404540G>A , CM000668.2:g.10404540G>A | GRCh38 |
| NC_000006.11:g.10404773G>A , CM000668.1:g.10404773G>A | GRCh37 |
| NC_000006.10:g.10512759G>A | NCBI36 |
| NG_016151.1:g.20025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379608.9:c.714C>T (TFAP2A) | ENSP00000368928.3:p.Leu238= | |
| ENST00000379613.10:c.738C>T (TFAP2A) MANE Select | ENSP00000368933.5:p.Leu246= | |
| ENST00000482890.6:c.738C>T (TFAP2A) | ENSP00000418541.2:p.Leu246= | |
| ENST00000488193.7:c.*229C>T (TFAP2A) | ENSP00000419823.3:n.*229C>T | |
| ENST00000498450.3:c.303C>T (TFAP2A) | ENSP00000419961.3:p.Leu101= | |
| ENST00000319516.8:c.720C>T (TFAP2A) | ENSP00000316516.4:p.Leu240= | |
| ENST00000379608.7:c.714C>T (TFAP2A) | ENSP00000368928.3:p.Leu238= | |
| ENST00000379613.7:c.738C>T (TFAP2A) | ENSP00000368933.3:p.Leu246= | |
| ENST00000461628.5:c.55C>T (TFAP2A) | ||
| ENST00000466073.5:c.732C>T (TFAP2A) | ENSP00000417495.1:p.Leu244= | |
| ENST00000475264.5:c.446C>T (TFAP2A) | ||
| ENST00000478375.5:n.732C>T (TFAP2A) | ||
| ENST00000482890.5:c.732C>T (TFAP2A) | ENSP00000418541.1:p.Leu244= | |
| ENST00000488193.5:c.*229C>T (TFAP2A) | ENSP00000419823.1:n.*229C>T | |
| ENST00000489805.5:c.*229C>T (TFAP2A) | ENSP00000420568.1:n.*229C>T | |
| ENST00000497266.5:n.703C>T (TFAP2A) | ||
| ENST00000498450.1:c.303C>T (TFAP2A) | ENSP00000419961.1:p.Leu101= | |
| NM_001032280.2:c.714C>T (TFAP2A) | NP_001027451.1:p.Leu238= | |
| NM_001042425.1:c.720C>T (TFAP2A) | NP_001035890.1:p.Leu240= | |
| NM_003220.2:c.732C>T (TFAP2A) | NP_003211.1:p.Leu244= | |
| XM_006715175.2:c.867C>T (TFAP2A) | XP_006715238.1:p.Leu289= | |
| XM_011514833.1:c.582C>T (TFAP2A) | XP_011513135.1:p.Leu194= | |
| NR_145448.1:n.39G>A (TFAP2A-AS2) | ||
| XM_011514833.2:c.582C>T (TFAP2A) | XP_011513135.1:p.Leu194= | |
| XM_017011232.1:c.978C>T (TFAP2A) | XP_016866721.1:p.Leu326= | |
| NM_003220.3:c.732C>T (TFAP2A) | NP_003211.1:p.Leu244= | |
| NM_001032280.3:c.714C>T (TFAP2A) | NP_001027451.1:p.Leu238= | |
| NM_001042425.2:c.720C>T (TFAP2A) | NP_001035890.1:p.Leu240= | |
| NM_001372066.1:c.738C>T (TFAP2A) MANE Select | NP_001358995.1:p.Leu246= | |
| NM_001042425.3:c.720C>T (TFAP2A) | NP_001035890.1:p.Leu240= |