Linked Data
dbSNP Id:
rs988910700
gnomAD v4:
2-174799963-G-T
MyVariant Identifiers:
chr2:g.174799963G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174799963G>T , CM000664.2:g.174799963G>T | GRCh38 |
| NC_000002.11:g.175664691G>T , CM000664.1:g.175664691G>T | GRCh37 |
| NC_000002.10:g.175372937G>T | NCBI36 |
| NG_012642.1:g.210480C>A | |
| NG_012642.2:g.210480C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.*153C>A | ENSP00000295497.7:n.*153C>A | |
| ENST00000295497.12:c.*153C>A | ENSP00000295497.7:n.*153C>A | |
| ENST00000409900.9:c.*153C>A MANE Select | ENSP00000386741.4:n.*153C>A | |
| ENST00000413882.6:c.*153C>A | ENSP00000410496.2:n.*153C>A | |
| ENST00000443238.6:c.*153C>A | ENSP00000409798.2:n.*153C>A | |
| ENST00000488080.6:n.1176C>A | ||
| ENST00000650731.1:c.*153C>A | ENSP00000499146.1:n.*153C>A | |
| ENST00000650938.1:c.919C>A | ||
| ENST00000651246.1:c.*153C>A | ENSP00000498484.1:n.*153C>A | |
| ENST00000651501.1:c.*980C>A | ENSP00000498894.1:n.*980C>A | |
| ENST00000651717.1:c.*809C>A | ENSP00000499124.1:n.*809C>A | |
| ENST00000652036.1:c.*153C>A | ENSP00000499139.1:n.*153C>A | |
| ENST00000295497.11:c.*153C>A | ENSP00000295497.7:n.*153C>A | |
| ENST00000409597.5:c.*153C>A | ENSP00000386469.1:n.*153C>A | |
| ENST00000409900.7:c.*153C>A | ENSP00000386741.3:n.*153C>A | |
| ENST00000488080.5:n.1384C>A | ||
| ENST00000492964.1:n.676C>A | ||
| NM_001025201.3:c.*153C>A | NP_001020372.2:n.*153C>A | |
| NM_001206602.1:c.*153C>A | NP_001193531.1:n.*153C>A | |
| NM_001822.5:c.*153C>A | NP_001813.1:n.*153C>A | |
| NR_038133.1:n.1399C>A | ||
| NM_001025201.4:c.*153C>A | NP_001020372.2:n.*153C>A | |
| NM_001206602.2:c.*153C>A | NP_001193531.1:n.*153C>A | |
| NM_001371513.1:c.*153C>A | NP_001358442.1:n.*153C>A | |
| NM_001371514.1:c.*153C>A | NP_001358443.1:n.*153C>A | |
| NM_001822.7:c.*153C>A MANE Select | NP_001813.1:n.*153C>A | |
| NR_038133.2:n.1401C>A |