Linked Data
dbSNP Id:
rs1683034207
gnomAD v3:
2-27375063-G-A
gnomAD v4:
2-27375063-G-A
MyVariant Identifiers:
chr2:g.27597930G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375063G>A , CM000664.2:g.27375063G>A | GRCh38 |
| NC_000002.11:g.27597930G>A , CM000664.1:g.27597930G>A | GRCh37 |
| NC_000002.10:g.27451434G>A | NCBI36 |
| NG_009305.1:g.395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.684G>A MANE Select | ENSP00000233575.2:p.Thr228= | |
| ENST00000233575.6:c.684G>A | ENSP00000233575.2:p.Thr228= | |
| ENST00000427123.5:c.*494G>A | ENSP00000405399.1:n.*494G>A | |
| ENST00000440760.5:c.*529G>A | ENSP00000399727.1:n.*529G>A | |
| ENST00000453453.1:c.*211G>A | ENSP00000401922.1:n.*211G>A | |
| ENST00000493711.1:n.401G>A | ||
| ENST00000494893.5:n.860G>A | ||
| ENST00000537606.5:c.609G>A | ENSP00000439208.1:p.Thr203= | |
| NM_001267059.1:c.648G>A | NP_001253988.1:p.Thr216= | |
| NM_001267060.1:c.609G>A | NP_001253989.1:p.Thr203= | |
| NM_001267061.1:c.624G>A | NP_001253990.1:p.Thr208= | |
| NM_014748.3:c.684G>A | NP_055563.1:p.Thr228= | |
| NR_049782.1:n.1057G>A | ||
| NR_049783.1:n.1030G>A | ||
| NR_049784.1:n.1006G>A | ||
| NR_049785.1:n.939G>A | ||
| NR_049786.1:n.888G>A | ||
| NR_049787.1:n.739G>A | ||
| NR_049788.1:n.669G>A | ||
| XM_011533203.1:c.42G>A | XP_011531505.1:p.Thr14= | |
| XM_011533203.2:c.42G>A | XP_011531505.1:p.Thr14= | |
| XM_017005405.2:c.42G>A | XP_016860894.1:p.Thr14= | |
| NM_014748.4:c.684G>A MANE Select | NP_055563.1:p.Thr228= | |
| NM_001267059.2:c.648G>A | NP_001253988.1:p.Thr216= | |
| NM_001267061.2:c.624G>A | NP_001253990.1:p.Thr208= | |
| NR_049782.2:n.937G>A | ||
| NR_049783.2:n.910G>A | ||
| NR_049784.2:n.886G>A | ||
| NR_049785.2:n.819G>A | ||
| NR_049786.2:n.768G>A | ||
| NR_049787.2:n.619G>A | ||
| NR_049788.2:n.549G>A | ||
| NM_001267060.2:c.609G>A | NP_001253989.1:p.Thr203= |