Canonical Allele Identifier: CA406367151

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860589A>T (hg19) ; chr19:g.45357331A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357331A>T , CM000681.2:g.45357331A>T	GRCh38
NC_000019.9:g.45860589A>T , CM000681.1:g.45860589A>T	GRCh37
NC_000019.8:g.50552429A>T	NCBI36
NG_007067.2:g.18257T>A , LRG_461:g.18257T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1418T>A	ENSP00000375808.4:p.Phe473Tyr
ENST00000682414.1:c.1418T>A	ENSP00000507019.1:p.Phe473Tyr
ENST00000682508.1:n.1447T>A
ENST00000684218.1:c.*676T>A	ENSP00000507804.1:n.*676T>A
ENST00000684264.1:n.974T>A
ENST00000684407.1:c.1295T>A	ENSP00000507775.1:p.Phe432Tyr
ENST00000684458.1:c.1348T>A	ENSP00000508260.1:p.Ser450Thr
ENST00000684468.1:n.1194T>A
ENST00000391945.10:c.1418T>A MANE Select	ENSP00000375809.4:p.Phe473Tyr
ENST00000587376.6:c.541T>A
ENST00000646507.1:n.1515T>A
ENST00000391941.6:c.1346T>A	ENSP00000375805.2:p.Phe449Tyr
ENST00000391942.6:n.589T>A
ENST00000391944.7:c.1184T>A	ENSP00000375808.3:p.Phe395Tyr
ENST00000391945.8:c.1418T>A	ENSP00000375809.3:p.Phe473Tyr
ENST00000587376.5:c.541T>A
ENST00000588652.5:n.1506T>A
NM_000400.3:c.1418T>A , LRG_461t1:c.1418T>A	NP_000391.1:p.Phe473Tyr
XM_011526611.1:c.1340T>A	XP_011524913.1:p.Phe447Tyr
XR_935763.1:n.1465T>A
XM_011526611.2:c.1340T>A	XP_011524913.1:p.Phe447Tyr
XM_017026467.1:c.1295T>A	XP_016881956.1:p.Phe432Tyr
XR_001753633.2:n.1465T>A
XR_001753634.2:n.1465T>A
NM_000400.4:c.1418T>A MANE Select	NP_000391.1:p.Phe473Tyr