Linked Data
ClinVar Variation Id:
2793618
ClinVar RCV Id:
RCV003670364
gnomAD v4:
2-43918316-T-C
MyVariant Identifiers:
chr2:g.44145455T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918316T>C , CM000664.2:g.43918316T>C | GRCh38 |
| NC_000002.11:g.44145455T>C , CM000664.1:g.44145455T>C | GRCh37 |
| NC_000002.10:g.43998959T>C | NCBI36 |
| NG_008247.1:g.82690A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.531A>G | ||
| ENST00000682295.1:c.243A>G | ENSP00000507499.1:p.Leu81= | |
| ENST00000682303.1:c.*2765A>G | ENSP00000508325.1:n.*2765A>G | |
| ENST00000682308.1:c.2979A>G | ENSP00000507056.1:p.Leu993= | |
| ENST00000682480.1:c.2979A>G | ENSP00000508344.1:p.Leu993= | |
| ENST00000682546.1:c.2976A>G | ENSP00000508188.1:p.Leu992= | |
| ENST00000682585.1:c.2979A>G | ENSP00000506885.1:p.Leu993= | |
| ENST00000682595.1:n.3563A>G | ||
| ENST00000682607.1:c.1397A>G | ||
| ENST00000682779.1:c.2970A>G | ENSP00000507947.1:p.Leu990= | |
| ENST00000682845.1:n.2081A>G | ||
| ENST00000682885.1:c.2934A>G | ENSP00000508036.1:p.Leu978= | |
| ENST00000682933.1:n.3053A>G | ||
| ENST00000683072.1:n.3563A>G | ||
| ENST00000683080.1:n.598A>G | ||
| ENST00000683125.1:c.3087A>G | ENSP00000507939.1:p.Leu1029= | |
| ENST00000683213.1:c.2982A>G | ENSP00000507751.1:p.Leu994= | |
| ENST00000683220.1:c.3009A>G | ENSP00000507151.1:p.Leu1003= | |
| ENST00000683236.1:c.309A>G | ENSP00000506891.1:n.309A>G | |
| ENST00000683329.1:n.3782A>G | ||
| ENST00000683346.1:c.*2854A>G | ENSP00000507458.1:n.*2854A>G | |
| ENST00000683409.1:n.1586A>G | ||
| ENST00000683459.1:n.3566A>G | ||
| ENST00000683590.1:c.2897-5758A>G | ENSP00000506820.1:n.2897-5758A>G | |
| ENST00000683623.1:c.2886A>G | ENSP00000507702.1:p.Leu962= | |
| ENST00000683645.1:n.3530A>G | ||
| ENST00000683796.1:c.*2851A>G | ENSP00000508221.1:n.*2851A>G | |
| ENST00000683802.1:n.5904A>G | ||
| ENST00000683833.1:c.2970A>G | ENSP00000506852.1:p.Leu990= | |
| ENST00000683994.1:c.2979A>G | ENSP00000507181.1:p.Leu993= | |
| ENST00000684290.1:c.*515A>G | ENSP00000507243.1:n.*515A>G | |
| ENST00000684306.1:c.*2892A>G | ENSP00000508384.1:n.*2892A>G | |
| ENST00000684341.1:n.2999A>G | ||
| ENST00000684383.1:c.*2617A>G | ENSP00000506863.1:n.*2617A>G | |
| ENST00000684619.1:c.*2851A>G | ENSP00000508088.1:n.*2851A>G | |
| ENST00000684705.1:n.100A>G | ||
| ENST00000684743.1:n.4010A>G | ||
| ENST00000260665.12:c.2979A>G MANE Select | ENSP00000260665.7:p.Leu993= | |
| ENST00000260665.11:c.2979A>G | ENSP00000260665.7:p.Leu993= | |
| NM_133259.3:c.2979A>G | NP_573566.2:p.Leu993= | |
| XM_006711915.2:c.2901A>G | XP_006711978.1:p.Leu967= | |
| XM_006711916.2:c.2979A>G | XP_006711979.1:p.Leu993= | |
| XM_011532473.1:c.2979A>G | XP_011530775.1:p.Leu993= | |
| XM_011532474.1:c.2979A>G | XP_011530776.1:p.Leu993= | |
| XM_006711916.3:c.2979A>G | XP_006711979.1:p.Leu993= | |
| XM_017003117.1:c.2901A>G | XP_016858606.1:p.Leu967= | |
| XR_002958896.1:n.3021A>G | ||
| NM_133259.4:c.2979A>G MANE Select | NP_573566.2:p.Leu993= |