Linked Data
ClinVar Variation Id:
2144127
ClinVar RCV Id:
RCV003062886
dbSNP Id:
rs1700559219
gnomAD v3:
2-237336502-A-G
gnomAD v4:
2-237336502-A-G
MyVariant Identifiers:
chr2:g.238245145A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336502A>G , CM000664.2:g.237336502A>G | GRCh38 |
| NC_000002.11:g.238245145A>G , CM000664.1:g.238245145A>G | GRCh37 |
| NC_000002.10:g.237909884A>G | NCBI36 |
| NG_008676.1:g.82706T>C , LRG_473:g.82706T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1243T>C | ||
| ENST00000353578.9:c.7980T>C | ENSP00000315873.4:p.Pro2660= | |
| ENST00000682957.1:c.725T>C | ||
| ENST00000684508.1:n.865T>C | ||
| ENST00000295550.9:c.8598T>C MANE Select | ENSP00000295550.4:p.Pro2866= | |
| ENST00000295550.8:c.8598T>C | ENSP00000295550.4:p.Pro2866= | |
| ENST00000347401.7:c.6774T>C | ENSP00000315609.4:p.Pro2258= | |
| ENST00000353578.8:c.7980T>C | ENSP00000315873.4:p.Pro2660= | |
| ENST00000409809.5:c.7980T>C | ENSP00000386844.1:p.Pro2660= | |
| ENST00000472056.5:c.6777T>C | ENSP00000418285.1:p.Pro2259= | |
| ENST00000491769.1:n.5040T>C | ||
| NM_004369.3:c.8598T>C , LRG_473t1:c.8598T>C | NP_004360.2:p.Pro2866= | |
| NM_057166.4:c.6777T>C | NP_476507.3:p.Pro2259= | |
| NM_057167.3:c.7980T>C | NP_476508.2:p.Pro2660= | |
| XM_005246065.1:c.7998T>C | XP_005246122.1:p.Pro2666= | |
| XM_005246066.1:c.7377T>C | XP_005246123.1:p.Pro2459= | |
| XM_006712253.1:c.8097T>C | XP_006712316.1:p.Pro2699= | |
| XM_011510574.1:c.8595T>C | XP_011508876.1:p.Pro2865= | |
| XM_011510575.1:c.6192T>C | XP_011508877.1:p.Pro2064= | |
| XM_017003304.1:c.6192T>C | XP_016858793.1:p.Pro2064= | |
| XM_024452684.1:c.7377T>C | XP_024308452.1:p.Pro2459= | |
| NM_004369.4:c.8598T>C MANE Select | NP_004360.2:p.Pro2866= | |
| NM_057166.5:c.6777T>C | NP_476507.3:p.Pro2259= | |
| NM_057167.4:c.7980T>C | NP_476508.2:p.Pro2660= |