Canonical Allele Identifier: CA507953337

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855599A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352341A>G , CM000681.2:g.45352341A>G	GRCh38
NC_000019.9:g.45855599A>G , CM000681.1:g.45855599A>G	GRCh37
NC_000019.8:g.50547439A>G	NCBI36
NG_007067.2:g.23247T>C , LRG_461:g.23247T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2058T>C	ENSP00000375808.4:p.Arg686=
ENST00000682414.1:c.2058T>C	ENSP00000507019.1:p.Arg686=
ENST00000682508.1:n.2087T>C
ENST00000684218.1:c.*1316T>C	ENSP00000507804.1:n.*1316T>C
ENST00000684264.1:n.1614T>C
ENST00000684407.1:c.1935T>C	ENSP00000507775.1:p.Arg645=
ENST00000684458.1:c.*544T>C	ENSP00000508260.1:n.*544T>C
ENST00000684468.1:n.1770T>C
ENST00000391945.10:c.2058T>C MANE Select	ENSP00000375809.4:p.Arg686=
ENST00000646507.1:n.2155T>C
ENST00000391941.6:c.1986T>C	ENSP00000375805.2:p.Arg662=
ENST00000391942.6:n.1229T>C
ENST00000391944.7:c.1824T>C	ENSP00000375808.3:p.Arg608=
ENST00000391945.8:c.2058T>C	ENSP00000375809.3:p.Arg686=
ENST00000588652.5:n.2146T>C
NM_000400.3:c.2058T>C , LRG_461t1:c.2058T>C	NP_000391.1:p.Arg686=
XM_011526611.1:c.1980T>C	XP_011524913.1:p.Arg660=
XM_011526611.2:c.1980T>C	XP_011524913.1:p.Arg660=
XM_017026467.1:c.1935T>C	XP_016881956.1:p.Arg645=
XR_001753633.2:n.2105T>C
XR_001753634.2:n.2041T>C
NM_000400.4:c.2058T>C MANE Select	NP_000391.1:p.Arg686=