Canonical Allele Identifier: CA466113687

Gene: ERCC6L2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95881227T>C , CM000671.2:g.95881227T>C	GRCh38
NC_000009.11:g.98643509T>C , CM000671.1:g.98643509T>C	GRCh37
NC_000009.10:g.97683330T>C	NCBI36
NG_034107.1:g.10610T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020207.7:c.405T>C MANE Select	NP_064592.3:p.Tyr135=
ENST00000653738.2:c.405T>C MANE Select	ENSP00000499221.2:p.Tyr135=
NM_001010895.2:c.438T>C	NP_001010895.1:p.Tyr146=
NM_001010895.4:c.405T>C	NP_001010895.2:p.Tyr135=
NM_001375291.1:c.405T>C	NP_001362220.1:p.Tyr135=
NM_001375292.1:c.405T>C	NP_001362221.1:p.Tyr135=
NM_001375293.1:c.405T>C	NP_001362222.1:p.Tyr135=
NM_001375294.1:c.405T>C	NP_001362223.1:p.Tyr135=
NM_020207.4:c.438T>C	NP_064592.2:p.Tyr146=
NR_164677.1:n.753T>C
ENST00000288985.11:c.438T>C	ENSP00000288985.7:p.Tyr146=
ENST00000288985.12:c.405T>C	ENSP00000288985.8:p.Tyr135=
ENST00000288985.13:c.405T>C	ENSP00000288985.8:p.Tyr135=
ENST00000402838.3:c.-64+9958T>C	ENSP00000384215.3:n.-64+9958T>C
ENST00000426805.2:c.438T>C	ENSP00000395345.2:p.Tyr146=
ENST00000456993.6:c.405T>C	ENSP00000409751.2:p.Tyr135=
ENST00000456993.7:c.405T>C	ENSP00000409751.2:p.Tyr135=
ENST00000466840.5:n.1322T>C
ENST00000653324.1:c.405T>C	ENSP00000499453.1:p.Tyr135=
ENST00000653324.2:c.405T>C	ENSP00000499453.1:p.Tyr135=
ENST00000659728.1:c.405T>C	ENSP00000499575.1:p.Tyr135=
ENST00000661047.1:c.405T>C	ENSP00000499236.1:p.Tyr135=
ENST00000665077.2:c.438T>C	ENSP00000499371.2:p.Tyr146=
ENST00000665077.3:c.405T>C	ENSP00000499371.3:p.Tyr135=
ENST00000665077.4:c.405T>C	ENSP00000499371.3:p.Tyr135=
ENST00000670016.1:c.405T>C	ENSP00000499338.1:p.Tyr135=
ENST00000682394.1:n.760T>C
ENST00000682748.1:c.405T>C	ENSP00000507452.1:p.Tyr135=
ENST00000682983.1:c.405T>C	ENSP00000507518.1:p.Tyr135=
ENST00000683128.1:c.405T>C	ENSP00000508232.1:p.Tyr135=
ENST00000683156.1:n.753T>C
ENST00000683176.1:n.742T>C
ENST00000683227.1:n.742T>C
ENST00000683230.1:n.433T>C
ENST00000683350.1:c.405T>C	ENSP00000507810.1:p.Tyr135=
ENST00000683937.1:c.405T>C	ENSP00000507442.1:p.Tyr135=
ENST00000683991.1:c.405T>C	ENSP00000507383.1:p.Tyr135=
XM_011518641.1:c.438T>C	XP_011516943.1:p.Tyr146=
XM_011518641.3:c.438T>C	XP_011516943.1:p.Tyr146=
XM_011518643.1:c.438T>C	XP_011516945.1:p.Tyr146=
XM_011518644.1:c.-263T>C	XP_011516946.1:n.-263T>C
XM_011518644.3:c.-263T>C	XP_011516946.1:n.-263T>C
XM_011518645.1:c.438T>C	XP_011516947.1:p.Tyr146=
XM_011518645.3:c.438T>C	XP_011516947.1:p.Tyr146=
XM_011518646.1:c.438T>C	XP_011516948.1:p.Tyr146=
XM_011518646.3:c.438T>C	XP_011516948.1:p.Tyr146=
XM_011518647.1:c.438T>C	XP_011516949.1:p.Tyr146=
XM_011518647.2:c.438T>C	XP_011516949.1:p.Tyr146=
XM_011518651.1:c.438T>C	XP_011516953.1:p.Tyr146=
XM_017014707.2:c.-1517T>C	XP_016870196.1:n.-1517T>C
XR_001746290.2:n.491T>C
XR_001746291.2:n.812T>C
XR_929787.1:n.826T>C
XR_929788.1:n.826T>C
XR_929789.1:n.826T>C
XR_929789.2:n.781T>C