MyVariant.info:
GRCh37
chr2:g.200213631G>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199348908G>T , CM000664.2:g.199348908G>T | GRCh38 |
| NC_000002.11:g.200213631G>T , CM000664.1:g.200213631G>T | GRCh37 |
| NC_000002.10:g.199921876G>T | NCBI36 |
| NG_016976.1:g.127359C>A | |
| NG_016976.2:g.127359C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428695.6:c.612C>A | ENSP00000388581.1:p.Ala204= | |
| ENST00000700191.1:c.612C>A | ENSP00000514853.1:p.Ala204= | |
| ENST00000700193.1:c.966C>A | ENSP00000514854.1:p.Ala322= | |
| ENST00000700208.1:c.347-76236C>A | ENSP00000514860.1:n.347-76236C>A | |
| ENST00000700210.1:c.620C>A | ||
| ENST00000417098.6:c.966C>A MANE Select | ENSP00000401112.1:p.Ala322= | |
| ENST00000260926.9:c.966C>A | ENSP00000260926.5:p.Ala322= | |
| ENST00000417098.5:c.966C>A | ENSP00000401112.1:p.Ala322= | |
| ENST00000428695.5:c.612C>A | ENSP00000388581.1:p.Ala204= | |
| ENST00000443023.5:c.789C>A | ENSP00000388764.1:p.Ala263= | |
| ENST00000457245.5:c.966C>A | ENSP00000405420.1:p.Ala322= | |
| ENST00000483346.2:n.605C>A | ||
| ENST00000614512.4:c.612C>A | ENSP00000483287.1:p.Ala204= | |
| NM_001172509.1:c.966C>A | NP_001165980.1:p.Ala322= | |
| NM_001172517.1:c.966C>A | NP_001165988.1:p.Ala322= | |
| NM_015265.3:c.966C>A | NP_056080.1:p.Ala322= | |
| XM_005246396.1:c.792C>A | XP_005246453.1:p.Ala264= | |
| XM_006712372.1:c.966C>A | XP_006712435.1:p.Ala322= | |
| XM_011510840.1:c.966C>A | XP_011509142.1:p.Ala322= | |
| XM_005246396.3:c.792C>A | XP_005246453.1:p.Ala264= | |
| XM_011510840.3:c.966C>A | XP_011509142.1:p.Ala322= | |
| XM_017003656.1:c.792C>A | XP_016859145.1:p.Ala264= | |
| XM_024452767.1:c.543C>A | XP_024308535.1:p.Ala181= | |
| XM_024452768.1:c.543C>A | XP_024308536.1:p.Ala181= | |
| NM_001172509.2:c.966C>A MANE Select | NP_001165980.1:p.Ala322= | |
| NM_015265.4:c.966C>A | NP_056080.1:p.Ala322= |