Linked Data
ClinVar Variation Id:
2650494
ClinVar RCV Id:
RCV003425428
dbSNP Id:
rs779666933
gnomAD v3:
19-54865824-T-C
gnomAD v4:
19-54865824-T-C
MyVariant Identifiers:
chr19:g.54865824T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54865824T>C , CM000681.2:g.54865824T>C | GRCh38 |
| NC_000019.8:g.60069091T>C | NCBI36 |
| NG_012802.1:g.20382T>C | |
| NG_012802.2:g.20505T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270442.5:c.969T>C (KIR3DL2) | ENSP00000270442.5:p.His323= | |
| ENST00000326321.7:c.1020T>C (KIR3DL2) MANE Select | ENSP00000325525.3:p.His340= | |
| ENST00000402254.6:c.1020T>C (KIR3DL1) | ENSP00000384528.2:p.His340= | |
| NM_001242867.1:c.969T>C (KIR3DL2) | NP_001229796.1:p.His323= | |
| NM_006737.3:c.1020T>C (KIR3DL2) | NP_006728.2:p.His340= | |
| XM_011526940.1:c.1001-546T>C (KIR3DL2) | XP_011525242.1:n.1001-546T>C | |
| XM_011526941.1:c.950-546T>C (KIR3DL2) | XP_011525243.1:n.950-546T>C | |
| XM_011526940.3:c.1001-546T>C (KIR3DL2) | XP_011525242.1:n.1001-546T>C | |
| NM_001242867.2:c.969T>C (KIR3DL2) | NP_001229796.1:p.His323= | |
| NM_006737.4:c.1020T>C (KIR3DL2) MANE Select | NP_006728.2:p.His340= |