Linked Data
ClinVar Variation Id:
2945624
ClinVar RCV Id:
RCV003803718
MyVariant Identifiers:
chr2:g.166243483A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165386973A>T , CM000664.2:g.165386973A>T | GRCh38 |
| NC_000002.11:g.166243483A>T , CM000664.1:g.166243483A>T | GRCh37 |
| NC_000002.10:g.165951729A>T | NCBI36 |
| NG_008143.1:g.152572A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.4779A>T MANE Plus Clinical | ENSP00000486885.1:p.Gly1593= | |
| ENST00000375437.7:c.4779A>T MANE Select | ENSP00000364586.2:p.Gly1593= | |
| ENST00000636071.2:c.4779A>T | ENSP00000490107.1:p.Gly1593= | |
| ENST00000636135.1:c.*3098A>T | ENSP00000489821.1:n.*3098A>T | |
| ENST00000636384.2:c.*2766A>T | ENSP00000490765.1:n.*2766A>T | |
| ENST00000636662.2:c.*5302A>T | ENSP00000489873.1:n.*5302A>T | |
| ENST00000636769.1:c.*2721A>T | ENSP00000490800.1:n.*2721A>T | |
| ENST00000636985.2:c.4383A>T | ENSP00000490849.1:p.Gly1461= | |
| ENST00000637266.2:c.4779A>T | ENSP00000490866.1:p.Gly1593= | |
| ENST00000283256.10:c.4779A>T | ENSP00000283256.6:p.Gly1593= | |
| ENST00000375427.4:c.4779A>T | ENSP00000364576.2:p.Gly1593= | |
| ENST00000375437.6:c.4779A>T | ENSP00000364586.2:p.Gly1593= | |
| ENST00000480032.4:n.8210A>T | ||
| ENST00000631182.2:c.4779A>T | ENSP00000486885.1:p.Gly1593= | |
| NM_001040142.1:c.4779A>T | NP_001035232.1:p.Gly1593= | |
| NM_001040143.1:c.4779A>T | NP_001035233.1:p.Gly1593= | |
| NM_021007.2:c.4779A>T | NP_066287.2:p.Gly1593= | |
| XM_005246750.2:c.4779A>T | XP_005246807.1:p.Gly1593= | |
| XM_005246753.2:c.4779A>T | XP_005246810.1:p.Gly1593= | |
| XM_005246754.3:c.4749A>T | XP_005246811.1:p.Gly1583= | |
| XM_005246755.3:c.4026A>T | XP_005246812.1:p.Gly1342= | |
| XM_011511608.1:c.4779A>T | XP_011509910.1:p.Gly1593= | |
| XM_011511609.1:c.4779A>T | XP_011509911.1:p.Gly1593= | |
| XM_005246753.3:c.4779A>T | XP_005246810.1:p.Gly1593= | |
| XM_017004656.1:c.4779A>T | XP_016860145.1:p.Gly1593= | |
| XM_017004657.1:c.4779A>T | XP_016860146.1:p.Gly1593= | |
| XM_017004658.1:c.4026A>T | XP_016860147.1:p.Gly1342= | |
| XM_017004659.1:c.2577A>T | XP_016860148.1:p.Gly859= | |
| XM_024453037.1:c.4026A>T | XP_024308805.1:p.Gly1342= | |
| NM_001040142.2:c.4779A>T MANE Select | NP_001035232.1:p.Gly1593= | |
| NM_001040143.2:c.4779A>T | NP_001035233.1:p.Gly1593= | |
| NM_001371246.1:c.4779A>T MANE Plus Clinical | NP_001358175.1:p.Gly1593= | |
| NM_001371247.1:c.4779A>T | NP_001358176.1:p.Gly1593= | |
| NM_021007.3:c.4779A>T | NP_066287.2:p.Gly1593= |