Linked Data
dbSNP Id:
rs1700580891
gnomAD v3:
2-215019611-G-A
gnomAD v4:
2-215019611-G-A
MyVariant Identifiers:
chr2:g.215884335G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215019611G>A , CM000664.2:g.215019611G>A | GRCh38 |
| NC_000002.11:g.215884335G>A , CM000664.1:g.215884335G>A | GRCh37 |
| NC_000002.10:g.215592580G>A | NCBI36 |
| NG_007074.1:g.123817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.1473C>T MANE Select | ENSP00000272895.7:p.Asp491= | |
| ENST00000272895.11:c.1473C>T | ENSP00000272895.7:p.Asp491= | |
| ENST00000389661.4:c.519C>T | ENSP00000374312.4:p.Asp173= | |
| NM_015657.3:c.519C>T | NP_056472.2:p.Asp173= | |
| NM_173076.2:c.1473C>T | NP_775099.2:p.Asp491= | |
| NR_103740.1:n.1717C>T | ||
| XM_011510951.1:c.1473C>T | XP_011509253.1:p.Asp491= | |
| XM_011510952.1:c.1473C>T | XP_011509254.1:p.Asp491= | |
| XM_011510951.2:c.1473C>T | XP_011509253.1:p.Asp491= | |
| NM_173076.3:c.1473C>T MANE Select | NP_775099.2:p.Asp491= | |
| NR_103740.2:n.1915C>T | ||
| NM_015657.4:c.519C>T | NP_056472.2:p.Asp173= |