Linked Data
dbSNP Id:
rs775757593
gnomAD v3:
2-43877673-G-A
gnomAD v4:
2-43877673-G-A
COSMIC:
COSM1021068
MyVariant Identifiers:
chr2:g.44104812G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877673G>A , CM000664.2:g.43877673G>A | GRCh38 |
| NC_000002.11:g.44104812G>A , CM000664.1:g.44104812G>A | GRCh37 |
| NC_000002.10:g.43958316G>A | NCBI36 |
| NG_008884.1:g.43710G>A | |
| NG_008884.2:g.50732G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1869G>A MANE Select | ENSP00000272286.2:p.Ala623= | |
| ENST00000272286.2:c.1869G>A | ENSP00000272286.2:p.Ala623= | |
| NM_022437.2:c.1869G>A | NP_071882.1:p.Ala623= | |
| XM_005264483.2:c.1866G>A | XP_005264540.1:p.Ala622= | |
| XM_011533029.1:c.1881G>A | XP_011531331.1:p.Ala627= | |
| XM_011533030.1:c.1878G>A | XP_011531332.1:p.Ala626= | |
| XM_011533031.1:c.1653G>A | XP_011531333.1:p.Ala551= | |
| XR_939707.1:n.2371G>A | ||
| NM_001357321.1:c.1866G>A | NP_001344250.1:p.Ala622= | |
| XM_011533029.2:c.1881G>A | XP_011531331.1:p.Ala627= | |
| XM_011533030.2:c.1878G>A | XP_011531332.1:p.Ala626= | |
| XR_001738891.1:n.2385G>A | ||
| XR_939707.2:n.2385G>A | ||
| NM_022437.3:c.1869G>A MANE Select | NP_071882.1:p.Ala623= | |
| NM_001357321.2:c.1866G>A | NP_001344250.1:p.Ala622= |