Linked Data
ClinVar Variation Id:
1653579
ClinVar RCV Id:
RCV002161226
dbSNP Id:
rs2104979514
MyVariant Identifiers:
chr2:g.44121748C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894609C>A , CM000664.2:g.43894609C>A | GRCh38 |
| NC_000002.11:g.44121748C>A , CM000664.1:g.44121748C>A | GRCh37 |
| NC_000002.10:g.43975252C>A | NCBI36 |
| NG_008247.1:g.106397G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.551G>T | ||
| ENST00000681993.1:n.1473G>T | ||
| ENST00000682154.1:n.1355G>T | ||
| ENST00000682303.1:c.*3632G>T | ENSP00000508325.1:n.*3632G>T | |
| ENST00000682308.1:c.3846G>T | ENSP00000507056.1:p.Val1282= | |
| ENST00000682434.1:n.3476G>T | ||
| ENST00000682480.1:c.3939G>T | ENSP00000508344.1:p.Val1313= | |
| ENST00000682546.1:c.3918G>T | ENSP00000508188.1:p.Val1306= | |
| ENST00000682585.1:c.*49G>T | ENSP00000506885.1:n.*49G>T | |
| ENST00000682607.1:c.2664G>T | ||
| ENST00000682612.1:c.752+2025G>T | ||
| ENST00000682696.1:c.21G>T | ENSP00000508411.1:p.Val7= | |
| ENST00000682779.1:c.3912G>T | ENSP00000507947.1:p.Val1304= | |
| ENST00000682885.1:c.3876G>T | ENSP00000508036.1:p.Val1292= | |
| ENST00000682933.1:n.4121G>T | ||
| ENST00000683002.1:c.773G>T | ||
| ENST00000683072.1:n.4505G>T | ||
| ENST00000683080.1:n.1540G>T | ||
| ENST00000683096.1:n.2362G>T | ||
| ENST00000683125.1:c.4029G>T | ENSP00000507939.1:p.Val1343= | |
| ENST00000683213.1:c.3924G>T | ENSP00000507751.1:p.Val1308= | |
| ENST00000683220.1:c.3951G>T | ENSP00000507151.1:p.Val1317= | |
| ENST00000683329.1:n.4724G>T | ||
| ENST00000683346.1:c.*3796G>T | ENSP00000507458.1:n.*3796G>T | |
| ENST00000683409.1:n.2453G>T | ||
| ENST00000683459.1:n.4508G>T | ||
| ENST00000683590.1:c.3594G>T | ENSP00000506820.1:p.Val1198= | |
| ENST00000683623.1:c.3828G>T | ENSP00000507702.1:p.Val1276= | |
| ENST00000683796.1:c.*3718G>T | ENSP00000508221.1:n.*3718G>T | |
| ENST00000683833.1:c.3837G>T | ENSP00000506852.1:p.Val1279= | |
| ENST00000683994.1:c.*34G>T | ENSP00000507181.1:n.*34G>T | |
| ENST00000684290.1:c.*1382G>T | ENSP00000507243.1:n.*1382G>T | |
| ENST00000684306.1:c.*3834G>T | ENSP00000508384.1:n.*3834G>T | |
| ENST00000684383.1:c.*3559G>T | ENSP00000506863.1:n.*3559G>T | |
| ENST00000684418.1:n.5102G>T | ||
| ENST00000684433.1:n.305G>T | ||
| ENST00000684454.1:n.7785G>T | ||
| ENST00000684619.1:c.*3793G>T | ENSP00000508088.1:n.*3793G>T | |
| ENST00000684743.1:n.6666G>T | ||
| ENST00000260665.12:c.3921G>T MANE Select | ENSP00000260665.7:p.Val1307= | |
| ENST00000260665.11:c.3921G>T | ENSP00000260665.7:p.Val1307= | |
| ENST00000419884.5:c.162G>T | ENSP00000414207.1:p.Val54= | |
| ENST00000463456.5:n.2964G>T | ||
| NM_133259.3:c.3921G>T | NP_573566.2:p.Val1307= | |
| XM_006711915.2:c.3843G>T | XP_006711978.1:p.Val1281= | |
| XM_011532473.1:c.3846G>T | XP_011530775.1:p.Val1282= | |
| XM_011532474.1:c.3921G>T | XP_011530776.1:p.Val1307= | |
| XM_017003117.1:c.3768G>T | XP_016858606.1:p.Val1256= | |
| XR_002958896.1:n.3963G>T | ||
| NM_133259.4:c.3921G>T MANE Select | NP_573566.2:p.Val1307= |