Linked Data
MyVariant Identifiers:
chr2:g.113588127T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112830550T>G , CM000664.2:g.112830550T>G | GRCh38 |
| NC_000002.11:g.113588127T>G , CM000664.1:g.113588127T>G | GRCh37 |
| NC_000002.10:g.113304598T>G | NCBI36 |
| NG_008851.1:g.11230A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.621A>C MANE Select | ENSP00000263341.2:p.Pro207= | |
| ENST00000263341.6:c.621A>C | ENSP00000263341.2:p.Pro207= | |
| ENST00000491056.5:n.1428A>C | ||
| NM_000576.2:c.621A>C | NP_000567.1:p.Pro207= | |
| XM_006712496.1:c.387A>C | XP_006712559.1:p.Pro129= | |
| XM_017003988.2:c.528A>C | XP_016859477.1:p.Pro176= | |
| NM_000576.3:c.621A>C MANE Select | NP_000567.1:p.Pro207= |