Linked Data
gnomAD v3:
2-15945713-C-G
gnomAD v4:
2-15945713-C-G
MyVariant Identifiers:
chr2:g.16085835C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945713C>G , CM000664.2:g.15945713C>G | GRCh38 |
| NC_000002.11:g.16085835C>G , CM000664.1:g.16085835C>G | GRCh37 |
| NC_000002.10:g.16003286C>G | NCBI36 |
| NG_007457.1:g.10153C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.360C>G | ||
| ENST00000281043.4:c.1011C>G MANE Select | ENSP00000281043.3:p.Pro337= | |
| ENST00000638417.1:c.378C>G | ENSP00000491476.1:p.Pro126= | |
| ENST00000281043.3:c.1011C>G | ENSP00000281043.3:p.Pro337= | |
| NM_001293228.1:c.1011C>G | NP_001280157.1:p.Pro337= | |
| NM_001293231.1:c.378C>G | NP_001280160.1:p.Pro126= | |
| NM_001293233.1:c.*946C>G | NP_001280162.1:n.*946C>G | |
| NM_005378.5:c.1011C>G | NP_005369.2:p.Pro337= | |
| NM_005378.6:c.1011C>G MANE Select | NP_005369.2:p.Pro337= | |
| NM_001293228.2:c.1011C>G | NP_001280157.1:p.Pro337= | |
| NM_001293231.2:c.378C>G | NP_001280160.1:p.Pro126= | |
| NM_001293233.2:c.*946C>G | NP_001280162.1:n.*946C>G |