Canonical Allele Identifier: CA5139949
Gene: ERCC6L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96004579G>T , CM000671.2:g.96004579G>T GRCh38
NC_000009.11:g.98766861G>T , CM000671.1:g.98766861G>T GRCh37
NC_000009.10:g.97806682G>T NCBI36
NG_034107.1:g.133962G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020207.7:c.3552G>T MANE Select NP_064592.3:p.Pro1184=
ENST00000653738.2:c.3552G>T MANE Select ENSP00000499221.2:p.Pro1184=
NM_001375291.1:c.3552G>T NP_001362220.1:p.Pro1184=
NM_001375292.1:c.3552G>T NP_001362221.1:p.Pro1184=
NM_020207.4:c.3585G>T NP_064592.2:p.Pro1195=
NR_164677.1:n.4068G>T
ENST00000320486.6:c.467G>T
ENST00000402838.3:c.3018G>T ENSP00000384215.3:p.Pro1006=
ENST00000456993.7:c.*2734G>T ENSP00000409751.2:n.*2734G>T
ENST00000479391.6:c.2573G>T
ENST00000479391.7:c.3181G>T
ENST00000653324.2:c.*2035G>T ENSP00000499453.1:n.*2035G>T
ENST00000659728.1:c.*210G>T ENSP00000499575.1:n.*210G>T
ENST00000661047.1:c.*1616G>T ENSP00000499236.1:n.*1616G>T
ENST00000668220.1:c.139-7646G>T ENSP00000499429.1:n.139-7646G>T
ENST00000670016.1:c.*1381G>T ENSP00000499338.1:n.*1381G>T
ENST00000682148.1:n.3260G>T
ENST00000682748.1:c.*2929G>T ENSP00000507452.1:n.*2929G>T
ENST00000682951.1:n.1637G>T
ENST00000682983.1:c.3552G>T ENSP00000507518.1:p.Pro1184=
ENST00000683128.1:c.*170G>T ENSP00000508232.1:n.*170G>T
ENST00000683176.1:n.5360G>T
ENST00000683227.1:n.5165G>T
ENST00000683937.1:c.3507G>T ENSP00000507442.1:p.Pro1169=
XM_011518641.1:c.3432G>T XP_011516943.1:p.Pro1144=
XM_011518641.3:c.3432G>T XP_011516943.1:p.Pro1144=
XM_011518642.1:c.2958G>T XP_011516944.1:p.Pro986=
XM_011518643.1:c.3585G>T XP_011516945.1:p.Pro1195=
XM_011518644.1:c.2691G>T XP_011516946.1:p.Pro897=
XM_011518644.3:c.2691G>T XP_011516946.1:p.Pro897=
XM_011518645.1:c.3585G>T XP_011516947.1:p.Pro1195=
XM_011518645.3:c.3585G>T XP_011516947.1:p.Pro1195=
XM_011518648.1:c.1920G>T XP_011516950.1:p.Pro640=
XM_011518648.3:c.1920G>T XP_011516950.1:p.Pro640=
XM_011518649.1:c.1632G>T XP_011516951.1:p.Pro544=
XM_011518650.1:c.1425G>T XP_011516952.1:p.Pro475=
XM_011518650.3:c.1425G>T XP_011516952.1:p.Pro475=
XM_017014707.2:c.1632G>T XP_016870196.1:p.Pro544=
XR_001746290.2:n.3806G>T
XR_001746291.2:n.4126G>T
XR_929787.1:n.3973G>T
XR_929789.2:n.5399G>T