Linked Data
dbSNP Id:
rs1467158220
ExAC:
2:44102499 A / G
gnomAD v2:
2-44102499-A-G
gnomAD v4:
2-43875360-A-G
MyVariant Identifiers:
chr2:g.44102499A>G (hg19)
chr2:g.44102499_44102502delinsGCTC (hg19)
chr2:g.43875360A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875360A>G , CM000664.2:g.43875360A>G | GRCh38 |
| NC_000002.11:g.44102499A>G , CM000664.1:g.44102499A>G | GRCh37 |
| NC_000002.10:g.43956003A>G | NCBI36 |
| NG_008884.1:g.41397A>G | |
| NG_008884.2:g.48419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1703A>G MANE Select | ENSP00000272286.2:p.Asn568Ser | |
| ENST00000272286.2:c.1703A>G | ENSP00000272286.2:p.Asn568Ser | |
| NM_022437.2:c.1703A>G | NP_071882.1:p.Asn568Ser | |
| XM_005264483.2:c.1700A>G | XP_005264540.1:p.Asn567Ser | |
| XM_011533029.1:c.1715A>G | XP_011531331.1:p.Asn572Ser | |
| XM_011533030.1:c.1712A>G | XP_011531332.1:p.Asn571Ser | |
| XM_011533031.1:c.1487A>G | XP_011531333.1:p.Asn496Ser | |
| XR_939707.1:n.2205A>G | ||
| NM_001357321.1:c.1700A>G | NP_001344250.1:p.Asn567Ser | |
| XM_011533029.2:c.1715A>G | XP_011531331.1:p.Asn572Ser | |
| XM_011533030.2:c.1712A>G | XP_011531332.1:p.Asn571Ser | |
| XR_001738891.1:n.2219A>G | ||
| XR_939707.2:n.2219A>G | ||
| NM_022437.3:c.1703A>G MANE Select | NP_071882.1:p.Asn568Ser | |
| NM_001357321.2:c.1700A>G | NP_001344250.1:p.Asn567Ser |