Canonical Allele Identifier: CA2838239693

Gene: ERCC6L2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95954152C>T , CM000671.2:g.95954152C>T	GRCh38
NC_000009.11:g.98716434C>T , CM000671.1:g.98716434C>T	GRCh37
NC_000009.10:g.97756255C>T	NCBI36
NG_034107.1:g.83535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288985.13:c.1848-1762C>T	ENSP00000288985.8:n.1848-1762C>T
ENST00000456993.7:c.*1030-1762C>T	ENSP00000409751.2:n.*1030-1762C>T
ENST00000479391.7:c.1115-576C>T
ENST00000653324.2:c.1848-576C>T	ENSP00000499453.1:n.1848-576C>T
ENST00000682394.1:n.2203-1762C>T
ENST00000682748.1:c.*1030-576C>T	ENSP00000507452.1:n.*1030-576C>T
ENST00000682983.1:c.1848-1762C>T	ENSP00000507518.1:n.1848-1762C>T
ENST00000683128.1:c.1848-1762C>T	ENSP00000508232.1:n.1848-1762C>T
ENST00000683176.1:n.2185-576C>T
ENST00000683227.1:n.2185-1762C>T
ENST00000683350.1:c.1848-1762C>T	ENSP00000507810.1:n.1848-1762C>T
ENST00000683937.1:c.1803-1762C>T	ENSP00000507442.1:n.1803-1762C>T
ENST00000683991.1:c.1848-1762C>T	ENSP00000507383.1:n.1848-1762C>T
ENST00000288985.12:c.1848-1762C>T	ENSP00000288985.8:n.1848-1762C>T
ENST00000402838.3:c.1314-1762C>T	ENSP00000384215.3:n.1314-1762C>T
ENST00000456993.6:c.*1030-1762C>T	ENSP00000409751.2:n.*1030-1762C>T
ENST00000653324.1:c.1848-576C>T	ENSP00000499453.1:n.1848-576C>T
ENST00000653738.2:c.1848-1762C>T MANE Select	ENSP00000499221.2:n.1848-1762C>T
ENST00000659728.1:c.1848-1762C>T	ENSP00000499575.1:n.1848-1762C>T
ENST00000661047.1:c.1848-1762C>T	ENSP00000499236.1:n.1848-1762C>T
ENST00000670016.1:c.1848-1762C>T	ENSP00000499338.1:n.1848-1762C>T
ENST00000288985.11:c.1881-1762C>T	ENSP00000288985.7:n.1881-1762C>T
ENST00000456993.5:c.927-576C>T	ENSP00000409751.1:n.927-576C>T
ENST00000466840.5:n.2888-1762C>T
ENST00000470362.1:n.47-1762C>T
ENST00000479391.6:c.507-576C>T
NM_001010895.2:c.1881-1762C>T	NP_001010895.1:n.1881-1762C>T
NM_020207.4:c.1881-1762C>T	NP_064592.2:n.1881-1762C>T
XM_011518641.1:c.1881-1762C>T	XP_011516943.1:n.1881-1762C>T
XM_011518642.1:c.1254-1762C>T	XP_011516944.1:n.1254-1762C>T
XM_011518643.1:c.1881-1762C>T	XP_011516945.1:n.1881-1762C>T
XM_011518644.1:c.987-1762C>T	XP_011516946.1:n.987-1762C>T
XM_011518645.1:c.1881-1762C>T	XP_011516947.1:n.1881-1762C>T
XM_011518646.1:c.1881-1762C>T	XP_011516948.1:n.1881-1762C>T
XM_011518647.1:c.1881-1762C>T	XP_011516949.1:n.1881-1762C>T
XM_011518648.1:c.216-1762C>T	XP_011516950.1:n.216-1762C>T
XM_011518651.1:c.1881-1762C>T	XP_011516953.1:n.1881-1762C>T
XR_929787.1:n.2269-1762C>T
XR_929788.1:n.2269-1762C>T
XR_929789.1:n.2269-576C>T
XM_011518641.3:c.1881-1762C>T	XP_011516943.1:n.1881-1762C>T
XM_011518644.3:c.987-1762C>T	XP_011516946.1:n.987-1762C>T
XM_011518645.3:c.1881-1762C>T	XP_011516947.1:n.1881-1762C>T
XM_011518646.3:c.1881-1762C>T	XP_011516948.1:n.1881-1762C>T
XM_011518647.2:c.1881-1762C>T	XP_011516949.1:n.1881-1762C>T
XM_011518648.3:c.216-1762C>T	XP_011516950.1:n.216-1762C>T
XM_011518650.3:c.-447-1762C>T	XP_011516952.1:n.-447-1762C>T
XM_017014707.2:c.-268-576C>T	XP_016870196.1:n.-268-576C>T
XR_001746290.2:n.1934-1762C>T
XR_001746291.2:n.2255-1762C>T
XR_929789.2:n.2224-576C>T
NM_001010895.4:c.1848-1762C>T	NP_001010895.2:n.1848-1762C>T
NM_001375291.1:c.1848-1762C>T	NP_001362220.1:n.1848-1762C>T
NM_001375292.1:c.1848-1762C>T	NP_001362221.1:n.1848-1762C>T
NM_001375293.1:c.1848-1762C>T	NP_001362222.1:n.1848-1762C>T
NM_001375294.1:c.1848-1762C>T	NP_001362223.1:n.1848-1762C>T
NM_020207.7:c.1848-1762C>T MANE Select	NP_064592.3:n.1848-1762C>T
NR_164677.1:n.2196-1762C>T