Canonical Allele Identifier: CA406360872

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855474A>T (hg19) ; chr19:g.45352216A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352216A>T , CM000681.2:g.45352216A>T	GRCh38
NC_000019.9:g.45855474A>T , CM000681.1:g.45855474A>T	GRCh37
NC_000019.8:g.50547314A>T	NCBI36
NG_007067.2:g.23372T>A , LRG_461:g.23372T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2183T>A	ENSP00000375808.4:p.Phe728Tyr
ENST00000682414.1:c.2183T>A	ENSP00000507019.1:p.Phe728Tyr
ENST00000682508.1:n.2212T>A
ENST00000684218.1:c.*1441T>A	ENSP00000507804.1:n.*1441T>A
ENST00000684264.1:n.1739T>A
ENST00000684407.1:c.2060T>A	ENSP00000507775.1:p.Phe687Tyr
ENST00000684458.1:c.*669T>A	ENSP00000508260.1:n.*669T>A
ENST00000684468.1:n.1895T>A
ENST00000391945.10:c.2183T>A MANE Select	ENSP00000375809.4:p.Phe728Tyr
ENST00000646507.1:n.2280T>A
ENST00000391941.6:c.2111T>A	ENSP00000375805.2:p.Phe704Tyr
ENST00000391942.6:n.1354T>A
ENST00000391944.7:c.1949T>A	ENSP00000375808.3:p.Phe650Tyr
ENST00000391945.8:c.2183T>A	ENSP00000375809.3:p.Phe728Tyr
ENST00000588652.5:n.2271T>A
NM_000400.3:c.2183T>A , LRG_461t1:c.2183T>A	NP_000391.1:p.Phe728Tyr
XM_011526611.1:c.2105T>A	XP_011524913.1:p.Phe702Tyr
XM_011526611.2:c.2105T>A	XP_011524913.1:p.Phe702Tyr
XM_017026467.1:c.2060T>A	XP_016881956.1:p.Phe687Tyr
XR_001753633.2:n.2230T>A
XR_001753634.2:n.2166T>A
NM_000400.4:c.2183T>A MANE Select	NP_000391.1:p.Phe728Tyr