Linked Data
ClinVar Variation Id:
3227770
ClinVar RCV Id:
RCV004517519
MyVariant Identifiers:
chr2:g.44071717C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43844578C>T , CM000664.2:g.43844578C>T | GRCh38 |
| NC_000002.11:g.44071717C>T , CM000664.1:g.44071717C>T | GRCh37 |
| NC_000002.10:g.43925221C>T | NCBI36 |
| NG_008884.1:g.10615C>T | |
| NG_008884.2:g.17637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.135C>T MANE Select | ENSP00000272286.2:p.Asn45= | |
| ENST00000643284.1:n.592C>T | ||
| ENST00000644611.1:c.147C>T | ENSP00000495423.1:p.Asn49= | |
| ENST00000272286.2:c.135C>T | ENSP00000272286.2:p.Asn45= | |
| NM_022437.2:c.135C>T | NP_071882.1:p.Asn45= | |
| XM_005264483.2:c.135C>T | XP_005264540.1:p.Asn45= | |
| XM_011533029.1:c.147C>T | XP_011531331.1:p.Asn49= | |
| XM_011533030.1:c.147C>T | XP_011531332.1:p.Asn49= | |
| XM_011533031.1:c.-82C>T | XP_011531333.1:n.-82C>T | |
| XR_939707.1:n.637C>T | ||
| NM_001357321.1:c.135C>T | NP_001344250.1:p.Asn45= | |
| XM_011533029.2:c.147C>T | XP_011531331.1:p.Asn49= | |
| XM_011533030.2:c.147C>T | XP_011531332.1:p.Asn49= | |
| XR_001738891.1:n.651C>T | ||
| XR_939707.2:n.651C>T | ||
| NM_022437.3:c.135C>T MANE Select | NP_071882.1:p.Asn45= | |
| NM_001357321.2:c.135C>T | NP_001344250.1:p.Asn45= |