Linked Data
ClinVar Variation Id:
2805998
ClinVar RCV Id:
RCV003679513
MyVariant Identifiers:
chr2:g.44184562C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43957423C>T , CM000664.2:g.43957423C>T | GRCh38 |
| NC_000002.11:g.44184562C>T , CM000664.1:g.44184562C>T | GRCh37 |
| NC_000002.10:g.44038066C>T | NCBI36 |
| NG_008247.1:g.43583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409659.6:c.1611G>A | ENSP00000386562.2:p.Leu537= | |
| ENST00000447246.2:c.1611G>A | ENSP00000403637.2:p.Leu537= | |
| ENST00000467058.2:n.340G>A | ||
| ENST00000681959.1:n.1225G>A | ||
| ENST00000681961.1:n.1631G>A | ||
| ENST00000682104.1:c.1485G>A | ENSP00000507716.1:p.Leu495= | |
| ENST00000682303.1:c.*1483G>A | ENSP00000508325.1:n.*1483G>A | |
| ENST00000682308.1:c.1611G>A | ENSP00000507056.1:p.Leu537= | |
| ENST00000682480.1:c.1611G>A | ENSP00000508344.1:p.Leu537= | |
| ENST00000682546.1:c.1611G>A | ENSP00000508188.1:p.Leu537= | |
| ENST00000682585.1:c.1611G>A | ENSP00000506885.1:p.Leu537= | |
| ENST00000682595.1:n.2193G>A | ||
| ENST00000682607.1:c.29G>A | ||
| ENST00000682779.1:c.1602G>A | ENSP00000507947.1:p.Leu534= | |
| ENST00000682885.1:c.1611G>A | ENSP00000508036.1:p.Leu537= | |
| ENST00000682933.1:n.1685G>A | ||
| ENST00000683072.1:n.2193G>A | ||
| ENST00000683082.1:n.1629G>A | ||
| ENST00000683125.1:c.1611G>A | ENSP00000507939.1:p.Leu537= | |
| ENST00000683213.1:c.1614G>A | ENSP00000507751.1:p.Leu538= | |
| ENST00000683220.1:c.1611G>A | ENSP00000507151.1:p.Leu537= | |
| ENST00000683329.1:n.2414G>A | ||
| ENST00000683346.1:c.*1486G>A | ENSP00000507458.1:n.*1486G>A | |
| ENST00000683459.1:n.2198G>A | ||
| ENST00000683590.1:c.1611G>A | ENSP00000506820.1:p.Leu537= | |
| ENST00000683623.1:c.1611G>A | ENSP00000507702.1:p.Leu537= | |
| ENST00000683645.1:n.2131G>A | ||
| ENST00000683694.1:n.362G>A | ||
| ENST00000683796.1:c.*1483G>A | ENSP00000508221.1:n.*1483G>A | |
| ENST00000683802.1:n.4536G>A | ||
| ENST00000683833.1:c.1602G>A | ENSP00000506852.1:p.Leu534= | |
| ENST00000683934.1:c.1497G>A | ||
| ENST00000683989.1:c.1611G>A | ENSP00000507510.1:p.Leu537= | |
| ENST00000683994.1:c.1611G>A | ENSP00000507181.1:p.Leu537= | |
| ENST00000684290.1:c.1611G>A | ENSP00000507243.1:p.Leu537= | |
| ENST00000684306.1:c.*1524G>A | ENSP00000508384.1:n.*1524G>A | |
| ENST00000684341.1:n.1631G>A | ||
| ENST00000684383.1:c.*1249G>A | ENSP00000506863.1:n.*1249G>A | |
| ENST00000684482.1:c.4080G>A | ||
| ENST00000684619.1:c.*1483G>A | ENSP00000508088.1:n.*1483G>A | |
| ENST00000684743.1:n.2642G>A | ||
| ENST00000260665.12:c.1611G>A MANE Select | ENSP00000260665.7:p.Leu537= | |
| ENST00000260665.11:c.1611G>A | ENSP00000260665.7:p.Leu537= | |
| ENST00000467058.1:n.340G>A | ||
| NM_133259.3:c.1611G>A | NP_573566.2:p.Leu537= | |
| XM_006711915.2:c.1533G>A | XP_006711978.1:p.Leu511= | |
| XM_006711916.2:c.1611G>A | XP_006711979.1:p.Leu537= | |
| XM_011532473.1:c.1611G>A | XP_011530775.1:p.Leu537= | |
| XM_011532474.1:c.1611G>A | XP_011530776.1:p.Leu537= | |
| XM_006711916.3:c.1611G>A | XP_006711979.1:p.Leu537= | |
| XM_017003117.1:c.1533G>A | XP_016858606.1:p.Leu511= | |
| XR_002958896.1:n.1653G>A | ||
| NM_133259.4:c.1611G>A MANE Select | NP_573566.2:p.Leu537= |