Linked Data
ClinVar Variation Id:
7761
ClinVar RCV Id:
RCV000008202
dbSNP Id:
rs587776665
gnomAD v3:
2-201285237-CTG-C
gnomAD v4:
2-201285237-CTG-C
MyVariant Identifiers:
chr2:g.202149964_202149965del (hg19)
chr2:g.202149961_202149962del (hg19)
chr2:g.201285241_201285242del (hg38)
chr2:g.201285238_201285239del (hg38)
PubMed:
PMID:15531912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201285241_201285242del , CM000664.2:g.201285241_201285242del | GRCh38 |
| NC_000002.11:g.202149964_202149965del , CM000664.1:g.202149964_202149965del | GRCh37 |
| NC_000002.10:g.201858209_201858210del | NCBI36 |
| NG_007497.1:g.56784_56785del , LRG_34:g.56784_56785del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413726.6:c.1228_1229del | ENSP00000397528.2:p.Val410PhefsTer28 | |
| ENST00000440732.6:c.1228_1229del | ENSP00000396869.2:p.Val410PhefsTer28 | |
| ENST00000444430.3:c.976_977del | ENSP00000394434.3:p.Val326PhefsTer28 | |
| ENST00000450491.6:c.874_875del | ENSP00000391709.2:p.Val292PhefsTer28 | |
| ENST00000696067.1:c.1228_1229del | ENSP00000512369.1:p.Val410PhefsTer28 | |
| ENST00000696068.1:c.*455_*456del | ENSP00000512370.1:n.*455_*456del | |
| ENST00000696069.1:c.1183_1184del | ENSP00000512371.1:p.Val395PhefsTer? | |
| ENST00000696085.1:c.1360_1361del | ENSP00000512381.1:p.Val454PhefsTer28 | |
| ENST00000696086.1:n.502_503del | ||
| ENST00000696087.1:c.1183_1184del | ENSP00000512382.1:p.Val395PhefsTer28 | |
| ENST00000673742.1:c.1228_1229del MANE Select | ENSP00000501268.1:p.Val410PhefsTer28 | |
| ENST00000264274.13:c.976_977del | ENSP00000264274.9:p.Val326PhefsTer28 | |
| ENST00000264275.9:c.1279_1280del | ENSP00000264275.5:p.Val427PhefsTer28 | |
| ENST00000323492.11:c.1183_1184del | ENSP00000325722.7:p.Val395PhefsTer28 | |
| ENST00000339403.6:n.1449_1450del | ||
| ENST00000358485.8:c.1405_1406del | ENSP00000351273.4:p.Val469PhefsTer28 | |
| ENST00000392263.6:c.1183_1184del | ENSP00000376091.2:p.Val395PhefsTer28 | |
| ENST00000432109.6:c.1228_1229del | ENSP00000412523.2:p.Val410PhefsTer28 | |
| ENST00000444430.2:c.565_566del | ENSP00000394434.2:p.Val189PhefsTer28 | |
| NM_001080124.1:c.1183_1184del | NP_001073593.1:p.Val395PhefsTer28 | |
| NM_001080125.1:c.1405_1406del | NP_001073594.1:p.Val469PhefsTer28 | |
| NM_001228.4:c.1279_1280del , LRG_34t1:c.1279_1280del | NP_001219.2:p.Val427PhefsTer28 | |
| NM_033355.3:c.1228_1229del , LRG_34t2:c.1228_1229del | NP_203519.1:p.Val410PhefsTer28 | |
| NM_033356.3:c.1183_1184del | NP_203520.1:p.Val395PhefsTer28 | |
| NR_111983.1:n.1742_1743del | ||
| XM_005246885.1:c.1360_1361del | XP_005246942.1:p.Val454PhefsTer28 | |
| XM_005246886.1:c.1228_1229del | XP_005246943.1:p.Val410PhefsTer28 | |
| XM_005246887.1:c.1228_1229del | XP_005246944.1:p.Val410PhefsTer28 | |
| XM_005246888.1:c.1228_1229del | XP_005246945.1:p.Val410PhefsTer28 | |
| XM_005246889.1:c.1228_1229del | XP_005246946.1:p.Val410PhefsTer28 | |
| XM_005246890.2:c.1228_1229del | XP_005246947.1:p.Val410PhefsTer28 | |
| XM_005246891.3:c.1228_1229del | XP_005246948.1:p.Val410PhefsTer28 | |
| XM_005246892.1:c.1183_1184del | XP_005246949.1:p.Val395PhefsTer28 | |
| XM_005246894.2:c.631_632del | XP_005246951.1:p.Val211PhefsTer28 | |
| XM_006712789.1:c.1228_1229del | XP_006712852.1:p.Val410PhefsTer28 | |
| XM_006712790.2:c.1228_1229del | XP_006712853.1:p.Val410PhefsTer28 | |
| XM_006712791.1:c.1153_1154del | XP_006712854.1:p.Val385PhefsTer28 | |
| XM_011511969.1:c.793_794del | XP_011510271.1:p.Val265PhefsTer28 | |
| XM_005246885.2:c.1360_1361del | XP_005246942.1:p.Val454PhefsTer28 | |
| XM_005246886.2:c.1228_1229del | XP_005246943.1:p.Val410PhefsTer28 | |
| XM_005246887.2:c.1228_1229del | XP_005246944.1:p.Val410PhefsTer28 | |
| XM_005246888.2:c.1228_1229del | XP_005246945.1:p.Val410PhefsTer28 | |
| XM_005246889.2:c.1228_1229del | XP_005246946.1:p.Val410PhefsTer28 | |
| XM_005246890.4:c.1228_1229del | XP_005246947.1:p.Val410PhefsTer28 | |
| XM_005246891.5:c.1228_1229del | XP_005246948.1:p.Val410PhefsTer28 | |
| XM_005246892.2:c.1183_1184del | XP_005246949.1:p.Val395PhefsTer28 | |
| XM_005246894.4:c.631_632del | XP_005246951.1:p.Val211PhefsTer28 | |
| XM_006712789.2:c.1228_1229del | XP_006712852.1:p.Val410PhefsTer28 | |
| XM_006712790.4:c.1228_1229del | XP_006712853.1:p.Val410PhefsTer28 | |
| XM_011511969.2:c.793_794del | XP_011510271.1:p.Val265PhefsTer28 | |
| NM_001080124.2:c.1183_1184del | NP_001073593.1:p.Val395PhefsTer28 | |
| NM_001080125.2:c.1405_1406del | NP_001073594.1:p.Val469PhefsTer28 | |
| NM_001372051.1:c.1228_1229del MANE Select | NP_001358980.1:p.Val410PhefsTer28 | |
| NM_033356.4:c.1183_1184del | NP_203520.1:p.Val395PhefsTer28 | |
| NR_111983.2:n.1738_1739del | ||
| NM_001400642.1:c.1360_1361del | NP_001387571.1:p.Val454PhefsTer28 | |
| NM_001400645.1:c.1261_1262del | NP_001387574.1:p.Val421PhefsTer28 | |
| NM_001400648.1:c.1228_1229del | NP_001387577.1:p.Val410PhefsTer28 | |
| NM_001400651.1:c.1228_1229del | NP_001387580.1:p.Val410PhefsTer28 | |
| NM_001400653.1:c.1228_1229del | NP_001387582.1:p.Val410PhefsTer28 | |
| NM_001400654.1:c.1228_1229del | NP_001387583.1:p.Val410PhefsTer28 | |
| NM_001400655.1:c.1228_1229del | NP_001387584.1:p.Val410PhefsTer28 | |
| NM_001400656.1:c.1228_1229del | NP_001387585.1:p.Val410PhefsTer28 | |
| NM_001400657.1:c.1228_1229del | NP_001387586.1:p.Val410PhefsTer28 | |
| NM_001400658.1:c.1183_1184del | NP_001387587.1:p.Val395PhefsTer28 | |
| NM_001400659.1:c.1183_1184del | NP_001387588.1:p.Val395PhefsTer28 | |
| NM_001400660.1:c.1183_1184del | NP_001387589.1:p.Val395PhefsTer28 | |
| NM_001400661.1:c.1183_1184del | NP_001387590.1:p.Val395PhefsTer28 | |
| NM_001400662.1:c.1183_1184del | NP_001387591.1:p.Val395PhefsTer28 | |
| NM_001400663.1:c.1183_1184del | NP_001387592.1:p.Val395PhefsTer28 | |
| NM_001400664.1:c.1159_1160del | NP_001387593.1:p.Val387PhefsTer28 | |
| NM_001400665.1:c.1153_1154del | NP_001387594.1:p.Val385PhefsTer28 | |
| NM_001400666.1:c.1021_1022del | NP_001387595.1:p.Val341PhefsTer28 | |
| NM_001400667.1:c.976_977del | NP_001387596.1:p.Val326PhefsTer28 | |
| NM_001400668.1:c.976_977del | NP_001387597.1:p.Val326PhefsTer28 | |
| NM_001400669.1:c.919_920del | NP_001387598.1:p.Val307PhefsTer28 | |
| NM_001400670.1:c.803-22_803-21del | NP_001387599.1:n.803-22_803-21del | |
| NM_001400671.1:c.631_632del | NP_001387600.1:p.Val211PhefsTer28 | |
| NM_001400672.1:c.631_632del | NP_001387601.1:p.Val211PhefsTer28 | |
| NM_001400673.1:c.631_632del | NP_001387602.1:p.Val211PhefsTer28 | |
| NM_001400674.1:c.613_614del | NP_001387603.1:p.Val205PhefsTer28 | |
| NM_001400675.1:c.586_587del | NP_001387604.1:p.Val196PhefsTer28 | |
| NM_001400676.1:c.586_587del | NP_001387605.1:p.Val196PhefsTer28 | |
| NM_001400677.1:c.586_587del | NP_001387606.1:p.Val196PhefsTer28 | |
| NM_001400678.1:c.586_587del | NP_001387607.1:p.Val196PhefsTer28 | |
| NM_001400680.1:c.613_614del | NP_001387609.1:p.Val205PhefsTer28 | |
| NM_001400750.1:c.631_632del | NP_001387679.1:p.Val211PhefsTer28 | |
| NM_001400751.1:c.586_587del | NP_001387680.1:p.Val196PhefsTer28 | |
| NR_174564.1:n.1317_1318del | ||
| NR_174565.1:n.1447_1448del | ||
| NR_174581.1:n.1473_1474del | ||
| NR_174583.1:n.1579_1580del | ||
| NR_174584.1:n.1492_1493del | ||
| NR_174585.1:n.1510_1511del | ||
| NR_174586.1:n.1484_1485del | ||
| NR_174588.1:n.1647_1648del | ||
| NR_174589.1:n.1442_1443del | ||
| NR_174590.1:n.1534_1535del | ||
| NR_174591.1:n.1465_1466del | ||
| NR_174592.1:n.1810_1811del | ||
| NR_174593.1:n.1608_1609del | ||
| NR_174594.1:n.1651_1652del | ||
| NR_174595.1:n.1566_1567del | ||
| NR_174596.1:n.1403_1404del | ||
| NR_174598.1:n.1761_1762del | ||
| NR_174599.1:n.1145_1146del | ||
| NR_174600.1:n.1673_1674del | ||
| NR_174601.1:n.1598_1599del | ||
| NR_174602.1:n.1468_1469del |