Canonical Allele Identifier: CA406363869

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856051T>A (hg19) ; chr19:g.45352793T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352793T>A , CM000681.2:g.45352793T>A	GRCh38
NC_000019.9:g.45856051T>A , CM000681.1:g.45856051T>A	GRCh37
NC_000019.8:g.50547891T>A	NCBI36
NG_007067.2:g.22795A>T , LRG_461:g.22795A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1855A>T	ENSP00000375808.4:p.Ile619Phe
ENST00000682414.1:c.1855A>T	ENSP00000507019.1:p.Ile619Phe
ENST00000682508.1:n.1884A>T
ENST00000684218.1:c.*1113A>T	ENSP00000507804.1:n.*1113A>T
ENST00000684264.1:n.1411A>T
ENST00000684407.1:c.1732A>T	ENSP00000507775.1:p.Ile578Phe
ENST00000684458.1:c.*341A>T	ENSP00000508260.1:n.*341A>T
ENST00000684468.1:n.1567A>T
ENST00000391945.10:c.1855A>T MANE Select	ENSP00000375809.4:p.Ile619Phe
ENST00000646507.1:n.1952A>T
ENST00000391941.6:c.1783A>T	ENSP00000375805.2:p.Ile595Phe
ENST00000391942.6:n.1026A>T
ENST00000391944.7:c.1621A>T	ENSP00000375808.3:p.Ile541Phe
ENST00000391945.8:c.1855A>T	ENSP00000375809.3:p.Ile619Phe
ENST00000588652.5:n.1943A>T
NM_000400.3:c.1855A>T , LRG_461t1:c.1855A>T	NP_000391.1:p.Ile619Phe
XM_011526611.1:c.1777A>T	XP_011524913.1:p.Ile593Phe
XM_011526611.2:c.1777A>T	XP_011524913.1:p.Ile593Phe
XM_017026467.1:c.1732A>T	XP_016881956.1:p.Ile578Phe
XR_001753633.2:n.1902A>T
XR_001753634.2:n.1838A>T
NM_000400.4:c.1855A>T MANE Select	NP_000391.1:p.Ile619Phe