Canonical Allele Identifier: CA374115437

Gene: ERCC6L2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95876057C>G , CM000671.2:g.95876057C>G	GRCh38
NC_000009.11:g.98638339C>G , CM000671.1:g.98638339C>G	GRCh37
NC_000009.10:g.97678160C>G	NCBI36
NG_034107.1:g.5440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288985.13:c.19C>G	ENSP00000288985.8:p.Gln7Glu
ENST00000426805.2:c.52C>G	ENSP00000395345.2:p.Gln18Glu
ENST00000456993.7:c.19C>G	ENSP00000409751.2:p.Gln7Glu
ENST00000653324.2:c.19C>G	ENSP00000499453.1:p.Gln7Glu
ENST00000665077.4:c.19C>G	ENSP00000499371.3:p.Gln7Glu
ENST00000665077.3:c.19C>G	ENSP00000499371.3:p.Gln7Glu
ENST00000682394.1:n.374C>G
ENST00000682748.1:c.19C>G	ENSP00000507452.1:p.Gln7Glu
ENST00000682983.1:c.19C>G	ENSP00000507518.1:p.Gln7Glu
ENST00000683128.1:c.19C>G	ENSP00000508232.1:p.Gln7Glu
ENST00000683156.1:n.367C>G
ENST00000683176.1:n.356C>G
ENST00000683227.1:n.356C>G
ENST00000683230.1:n.74+925C>G
ENST00000683350.1:c.19C>G	ENSP00000507810.1:p.Gln7Glu
ENST00000683937.1:c.19C>G	ENSP00000507442.1:p.Gln7Glu
ENST00000683991.1:c.19C>G	ENSP00000507383.1:p.Gln7Glu
ENST00000288985.12:c.19C>G	ENSP00000288985.8:p.Gln7Glu
ENST00000402838.3:c.-64+4788C>G	ENSP00000384215.3:n.-64+4788C>G
ENST00000456993.6:c.19C>G	ENSP00000409751.2:p.Gln7Glu
ENST00000653324.1:c.19C>G	ENSP00000499453.1:p.Gln7Glu
ENST00000653738.2:c.19C>G MANE Select	ENSP00000499221.2:p.Gln7Glu
ENST00000659728.1:c.19C>G	ENSP00000499575.1:p.Gln7Glu
ENST00000661047.1:c.19C>G	ENSP00000499236.1:p.Gln7Glu
ENST00000665077.2:c.52C>G	ENSP00000499371.2:p.Gln18Glu
ENST00000670016.1:c.19C>G	ENSP00000499338.1:p.Gln7Glu
ENST00000288985.11:c.52C>G	ENSP00000288985.7:p.Gln18Glu
NM_001010895.2:c.52C>G	NP_001010895.1:p.Gln18Glu
NM_020207.4:c.52C>G	NP_064592.2:p.Gln18Glu
XM_011518641.1:c.52C>G	XP_011516943.1:p.Gln18Glu
XM_011518643.1:c.52C>G	XP_011516945.1:p.Gln18Glu
XM_011518644.1:c.-649C>G	XP_011516946.1:n.-649C>G
XM_011518645.1:c.52C>G	XP_011516947.1:p.Gln18Glu
XM_011518646.1:c.52C>G	XP_011516948.1:p.Gln18Glu
XM_011518647.1:c.52C>G	XP_011516949.1:p.Gln18Glu
XM_011518651.1:c.52C>G	XP_011516953.1:p.Gln18Glu
XR_929787.1:n.440C>G
XR_929788.1:n.440C>G
XR_929789.1:n.440C>G
XM_011518641.3:c.52C>G	XP_011516943.1:p.Gln18Glu
XM_011518644.3:c.-649C>G	XP_011516946.1:n.-649C>G
XM_011518645.3:c.52C>G	XP_011516947.1:p.Gln18Glu
XM_011518646.3:c.52C>G	XP_011516948.1:p.Gln18Glu
XM_011518647.2:c.52C>G	XP_011516949.1:p.Gln18Glu
XM_017014707.2:c.-1903C>G	XP_016870196.1:n.-1903C>G
XR_001746290.2:n.105C>G
XR_001746291.2:n.426C>G
XR_929789.2:n.395C>G
NM_001010895.4:c.19C>G	NP_001010895.2:p.Gln7Glu
NM_001375291.1:c.19C>G	NP_001362220.1:p.Gln7Glu
NM_001375292.1:c.19C>G	NP_001362221.1:p.Gln7Glu
NM_001375293.1:c.19C>G	NP_001362222.1:p.Gln7Glu
NM_001375294.1:c.19C>G	NP_001362223.1:p.Gln7Glu
NM_020207.7:c.19C>G MANE Select	NP_064592.3:p.Gln7Glu
NR_164677.1:n.367C>G