Linked Data
MyVariant Identifiers:
chr2:g.190439941G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189575215G>A , CM000664.2:g.189575215G>A | GRCh38 |
| NC_000002.11:g.190439941G>A , CM000664.1:g.190439941G>A | GRCh37 |
| NC_000002.10:g.190148186G>A | NCBI36 |
| NG_009027.1:g.10597C>T , LRG_837:g.10597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.217C>T MANE Select | ENSP00000261024.3:p.Leu73= | |
| ENST00000261024.6:c.217C>T | ENSP00000261024.2:p.Leu73= | |
| ENST00000418714.1:n.658C>T | ||
| ENST00000427241.5:c.217C>T | ENSP00000390005.1:p.Leu73= | |
| ENST00000479598.5:n.498C>T | ||
| NM_014585.5:c.217C>T , LRG_837t1:c.217C>T | NP_055400.1:p.Leu73= | |
| XM_005246505.1:c.97C>T | XP_005246562.1:p.Leu33= | |
| XM_005246505.2:c.97C>T | XP_005246562.1:p.Leu33= | |
| XM_017003938.2:c.97C>T | XP_016859427.1:p.Leu33= | |
| NM_014585.6:c.217C>T MANE Select | NP_055400.1:p.Leu73= |