Canonical Allele Identifier: CA5140099
Community Standard Title: NM_020207.7(ERCC6L2):c.4358G>T (p.Gly1453Val)
Gene: ERCC6L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96012908G>T , CM000671.2:g.96012908G>T GRCh38
NC_000009.11:g.98775190G>T , CM000671.1:g.98775190G>T GRCh37
NC_000009.10:g.97815011G>T NCBI36
NG_034107.1:g.142291G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020207.7:c.4358G>T MANE Select NP_064592.3:p.Gly1453Val
ENST00000653738.2:c.4358G>T MANE Select ENSP00000499221.2:p.Gly1453Val
NM_001375291.1:c.3674+8207G>T NP_001362220.1:n.3674+8207G>T
NM_001375292.1:c.3674+8207G>T NP_001362221.1:n.3674+8207G>T
NM_020207.4:c.4391G>T NP_064592.2:p.Gly1464Val
NR_164677.1:n.4874G>T
ENST00000320486.6:c.1273G>T
ENST00000456993.7:c.*3540G>T ENSP00000409751.2:n.*3540G>T
ENST00000653324.2:c.*2841G>T ENSP00000499453.1:n.*2841G>T
ENST00000659728.1:c.*1016G>T ENSP00000499575.1:n.*1016G>T
ENST00000661047.1:c.*2422G>T ENSP00000499236.1:n.*2422G>T
ENST00000670016.1:c.*1503+8207G>T ENSP00000499338.1:n.*1503+8207G>T
ENST00000682983.1:c.4358G>T ENSP00000507518.1:p.Gly1453Val
ENST00000683128.1:c.*976G>T ENSP00000508232.1:n.*976G>T
ENST00000683176.1:n.6166G>T
ENST00000683227.1:n.5971G>T
ENST00000683937.1:c.4313G>T ENSP00000507442.1:p.Gly1438Val
XM_011518641.1:c.4238G>T XP_011516943.1:p.Gly1413Val
XM_011518641.3:c.4238G>T XP_011516943.1:p.Gly1413Val
XM_011518642.1:c.3764G>T XP_011516944.1:p.Gly1255Val
XM_011518644.1:c.3497G>T XP_011516946.1:p.Gly1166Val
XM_011518644.3:c.3497G>T XP_011516946.1:p.Gly1166Val
XM_011518645.1:c.3707+8207G>T XP_011516947.1:n.3707+8207G>T
XM_011518645.3:c.3707+8207G>T XP_011516947.1:n.3707+8207G>T
XM_011518648.1:c.2726G>T XP_011516950.1:p.Gly909Val
XM_011518648.3:c.2726G>T XP_011516950.1:p.Gly909Val
XM_011518649.1:c.2438G>T XP_011516951.1:p.Gly813Val
XM_011518650.1:c.2231G>T XP_011516952.1:p.Gly744Val
XM_011518650.3:c.2231G>T XP_011516952.1:p.Gly744Val
XM_017014707.2:c.2438G>T XP_016870196.1:p.Gly813Val
XR_001746290.2:n.4612G>T
XR_001746291.2:n.4932G>T
XR_929787.1:n.4095+8207G>T
XR_929789.2:n.6205G>T