Linked Data
dbSNP Id:
rs2095358016
gnomAD v4:
2-71686459-T-C
MyVariant Identifiers:
chr2:g.71913589T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71686459T>C , CM000664.2:g.71686459T>C | GRCh38 |
| NC_000002.11:g.71913589T>C , CM000664.1:g.71913589T>C | GRCh37 |
| NC_000002.10:g.71767097T>C | NCBI36 |
| NG_008694.1:g.237837T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3741T>C | ENSP00000513536.1:p.Tyr1247= | |
| ENST00000698058.1:c.2958T>C | ENSP00000513537.1:p.Tyr986= | |
| ENST00000698059.1:c.3066T>C | ENSP00000513538.1:p.Tyr1022= | |
| ENST00000258104.8:c.6210T>C MANE Plus Clinical | ENSP00000258104.3:p.Tyr2070= | |
| ENST00000410020.8:c.6327T>C MANE Select | ENSP00000386881.3:p.Tyr2109= | |
| ENST00000258104.7:c.6210T>C | ENSP00000258104.3:p.Tyr2070= | |
| ENST00000394120.6:c.6213T>C | ENSP00000377678.2:p.Tyr2071= | |
| ENST00000409366.5:c.6276T>C | ENSP00000386512.1:p.Tyr2092= | |
| ENST00000409582.7:c.6324T>C | ENSP00000386547.3:p.Tyr2108= | |
| ENST00000409651.5:c.6306T>C | ENSP00000386683.1:p.Tyr2102= | |
| ENST00000409744.5:c.6234T>C | ENSP00000386285.1:p.Tyr2078= | |
| ENST00000409762.5:c.6261T>C | ENSP00000387137.1:p.Tyr2087= | |
| ENST00000410020.7:c.6327T>C | ENSP00000386881.3:p.Tyr2109= | |
| ENST00000410041.1:c.6264T>C | ENSP00000386617.1:p.Tyr2088= | |
| ENST00000413539.6:c.6303T>C | ENSP00000407046.2:p.Tyr2101= | |
| ENST00000429174.6:c.6273T>C | ENSP00000398305.2:p.Tyr2091= | |
| ENST00000479049.6:n.3095T>C | ||
| NM_001130455.1:c.6213T>C | NP_001123927.1:p.Tyr2071= | |
| NM_001130976.1:c.6168T>C | NP_001124448.1:p.Tyr2056= | |
| NM_001130977.1:c.6231T>C | NP_001124449.1:p.Tyr2077= | |
| NM_001130978.1:c.6273T>C | NP_001124450.1:p.Tyr2091= | |
| NM_001130979.1:c.6303T>C | NP_001124451.1:p.Tyr2101= | |
| NM_001130980.1:c.6261T>C | NP_001124452.1:p.Tyr2087= | |
| NM_001130981.1:c.6324T>C | NP_001124453.1:p.Tyr2108= | |
| NM_001130982.1:c.6306T>C | NP_001124454.1:p.Tyr2102= | |
| NM_001130983.1:c.6276T>C | NP_001124455.1:p.Tyr2092= | |
| NM_001130984.1:c.6234T>C | NP_001124456.1:p.Tyr2078= | |
| NM_001130985.1:c.6264T>C | NP_001124457.1:p.Tyr2088= | |
| NM_001130986.1:c.6171T>C | NP_001124458.1:p.Tyr2057= | |
| NM_001130987.1:c.6327T>C | NP_001124459.1:p.Tyr2109= | |
| NM_003494.3:c.6210T>C | NP_003485.1:p.Tyr2070= | |
| XM_005264584.3:c.6369T>C | XP_005264641.1:p.Tyr2123= | |
| XM_005264585.3:c.6366T>C | XP_005264642.1:p.Tyr2122= | |
| XM_005264584.4:c.6369T>C | XP_005264641.1:p.Tyr2123= | |
| XM_005264585.5:c.6366T>C | XP_005264642.1:p.Tyr2122= | |
| NM_001130987.2:c.6327T>C MANE Select | NP_001124459.1:p.Tyr2109= | |
| NM_001130455.2:c.6213T>C | NP_001123927.1:p.Tyr2071= | |
| NM_001130976.2:c.6168T>C | NP_001124448.1:p.Tyr2056= | |
| NM_001130977.2:c.6231T>C | NP_001124449.1:p.Tyr2077= | |
| NM_001130978.2:c.6273T>C | NP_001124450.1:p.Tyr2091= | |
| NM_001130979.2:c.6303T>C | NP_001124451.1:p.Tyr2101= | |
| NM_001130980.2:c.6261T>C | NP_001124452.1:p.Tyr2087= | |
| NM_001130981.2:c.6324T>C | NP_001124453.1:p.Tyr2108= | |
| NM_001130982.2:c.6306T>C | NP_001124454.1:p.Tyr2102= | |
| NM_001130983.2:c.6276T>C | NP_001124455.1:p.Tyr2092= | |
| NM_001130984.2:c.6234T>C | NP_001124456.1:p.Tyr2078= | |
| NM_001130985.2:c.6264T>C | NP_001124457.1:p.Tyr2088= | |
| NM_001130986.2:c.6171T>C | NP_001124458.1:p.Tyr2057= | |
| NM_003494.4:c.6210T>C MANE Plus Clinical | NP_003485.1:p.Tyr2070= |