Linked Data
dbSNP Id:
rs1669926733
gnomAD v4:
2-43875364-C-T
MyVariant Identifiers:
chr2:g.44102503C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875364C>T , CM000664.2:g.43875364C>T | GRCh38 |
| NC_000002.11:g.44102503C>T , CM000664.1:g.44102503C>T | GRCh37 |
| NC_000002.10:g.43956007C>T | NCBI36 |
| NG_008884.1:g.41401C>T | |
| NG_008884.2:g.48423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1707C>T MANE Select | ENSP00000272286.2:p.Ser569= | |
| ENST00000272286.2:c.1707C>T | ENSP00000272286.2:p.Ser569= | |
| NM_022437.2:c.1707C>T | NP_071882.1:p.Ser569= | |
| XM_005264483.2:c.1704C>T | XP_005264540.1:p.Ser568= | |
| XM_011533029.1:c.1719C>T | XP_011531331.1:p.Ser573= | |
| XM_011533030.1:c.1716C>T | XP_011531332.1:p.Ser572= | |
| XM_011533031.1:c.1491C>T | XP_011531333.1:p.Ser497= | |
| XR_939707.1:n.2209C>T | ||
| NM_001357321.1:c.1704C>T | NP_001344250.1:p.Ser568= | |
| XM_011533029.2:c.1719C>T | XP_011531331.1:p.Ser573= | |
| XM_011533030.2:c.1716C>T | XP_011531332.1:p.Ser572= | |
| XR_001738891.1:n.2223C>T | ||
| XR_939707.2:n.2223C>T | ||
| NM_022437.3:c.1707C>T MANE Select | NP_071882.1:p.Ser569= | |
| NM_001357321.2:c.1704C>T | NP_001344250.1:p.Ser568= |