Canonical Allele Identifier: CA406362007

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352244A>T , CM000681.2:g.45352244A>T	GRCh38
NC_000019.9:g.45855502A>T , CM000681.1:g.45855502A>T	GRCh37
NC_000019.8:g.50547342A>T	NCBI36
NG_007067.2:g.23344T>A , LRG_461:g.23344T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.2155T>A MANE Select	NP_000391.1:p.Tyr719Asn
ENST00000391945.10:c.2155T>A MANE Select	ENSP00000375809.4:p.Tyr719Asn
NM_000400.3:c.2155T>A , LRG_461t1:c.2155T>A	NP_000391.1:p.Tyr719Asn
ENST00000391941.6:c.2083T>A	ENSP00000375805.2:p.Tyr695Asn
ENST00000391942.6:n.1326T>A
ENST00000391944.7:c.1921T>A	ENSP00000375808.3:p.Tyr641Asn
ENST00000391944.8:c.2155T>A	ENSP00000375808.4:p.Tyr719Asn
ENST00000391945.8:c.2155T>A	ENSP00000375809.3:p.Tyr719Asn
ENST00000588652.5:n.2243T>A
ENST00000646507.1:n.2252T>A
ENST00000682414.1:c.2155T>A	ENSP00000507019.1:p.Tyr719Asn
ENST00000682508.1:n.2184T>A
ENST00000684218.1:c.*1413T>A	ENSP00000507804.1:n.*1413T>A
ENST00000684264.1:n.1711T>A
ENST00000684407.1:c.2032T>A	ENSP00000507775.1:p.Tyr678Asn
ENST00000684458.1:c.*641T>A	ENSP00000508260.1:n.*641T>A
ENST00000684468.1:n.1867T>A
XM_011526611.1:c.2077T>A	XP_011524913.1:p.Tyr693Asn
XM_011526611.2:c.2077T>A	XP_011524913.1:p.Tyr693Asn
XM_017026467.1:c.2032T>A	XP_016881956.1:p.Tyr678Asn
XR_001753633.2:n.2202T>A
XR_001753634.2:n.2138T>A