ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00066384 (NFE)
Genomes Max Group AF
0.00056861 (NFE)
Exomes Max Group AF
0.00065 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55030960G>A , CM000685.2:g.55030960G>A | GRCh38 |
| NC_000023.10:g.55057393G>A , CM000685.1:g.55057393G>A | GRCh37 |
| NC_000023.9:g.55074118G>A | NCBI36 |
| NG_008983.1:g.5105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455688.2:c.-54C>T (ALAS2) | ENSP00000407204.2:n.-54C>T | |
| ENST00000477869.6:c.-54C>T (ALAS2) | ENSP00000496725.1:n.-54C>T | |
| ENST00000493869.2:c.-34C>T (ALAS2) | ENSP00000495713.1:n.-34C>T | |
| ENST00000644983.1:c.-69C>T (ALAS2) | ENSP00000495814.1:n.-69C>T | |
| ENST00000650242.1:c.-34C>T (ALAS2) MANE Select | ENSP00000497236.1:n.-34C>T | |
| ENST00000330807.9:c.-34C>T (ALAS2) | ENSP00000332369.5:n.-34C>T | |
| ENST00000335854.8:c.-34C>T (ALAS2) | ENSP00000337131.4:n.-34C>T | |
| ENST00000396198.7:c.-69C>T (ALAS2) | ENSP00000379501.3:n.-69C>T | |
| ENST00000455688.1:c.18C>T (ALAS2) | ||
| ENST00000463868.5:n.18C>T (ALAS2) | ||
| ENST00000477869.5:n.18C>T (ALAS2) | ||
| ENST00000493869.1:n.18C>T (ALAS2) | ||
| NM_000032.4:c.-34C>T (ALAS2) | NP_000023.2:n.-34C>T | |
| NM_001037967.3:c.-34C>T (ALAS2) | NP_001033056.1:n.-34C>T | |
| NM_001037968.3:c.-69C>T (ALAS2) | NP_001033057.1:n.-69C>T | |
| XM_005261995.2:c.-69C>T (ALAS2) | XP_005262052.1:n.-69C>T | |
| XM_011530771.1:c.-561C>T (ALAS2) | XP_011529073.1:n.-561C>T | |
| XM_011530785.1:c.61+1288G>A (PAGE2B) | XP_011529087.1:n.61+1288G>A | |
| XM_011530786.1:c.-9G>A (PAGE2B) | XP_011529088.1:n.-9G>A | |
| NM_000032.5:c.-34C>T (ALAS2) MANE Select | NP_000023.2:n.-34C>T | |
| XM_011530785.2:c.61+1288G>A (PAGE2B) | XP_011529087.1:n.61+1288G>A | |
| XM_011530786.3:c.-9G>A (PAGE2B) | XP_011529088.1:n.-9G>A | |
| NM_001037967.4:c.-34C>T (ALAS2) | NP_001033056.1:n.-34C>T | |
| NM_001037968.4:c.-69C>T (ALAS2) | NP_001033057.1:n.-69C>T |