Canonical Allele Identifier: CA507953372

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855812C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352554C>G , CM000681.2:g.45352554C>G	GRCh38
NC_000019.9:g.45855812C>G , CM000681.1:g.45855812C>G	GRCh37
NC_000019.8:g.50547652C>G	NCBI36
NG_007067.2:g.23034G>C , LRG_461:g.23034G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1998G>C	ENSP00000375808.4:p.Arg666=
ENST00000682414.1:c.1998G>C	ENSP00000507019.1:p.Arg666=
ENST00000682508.1:n.2027G>C
ENST00000684218.1:c.*1256G>C	ENSP00000507804.1:n.*1256G>C
ENST00000684264.1:n.1554G>C
ENST00000684407.1:c.1875G>C	ENSP00000507775.1:p.Arg625=
ENST00000684458.1:c.*484G>C	ENSP00000508260.1:n.*484G>C
ENST00000684468.1:n.1710G>C
ENST00000391945.10:c.1998G>C MANE Select	ENSP00000375809.4:p.Arg666=
ENST00000646507.1:n.2095G>C
ENST00000391941.6:c.1926G>C	ENSP00000375805.2:p.Arg642=
ENST00000391942.6:n.1169G>C
ENST00000391944.7:c.1764G>C	ENSP00000375808.3:p.Arg588=
ENST00000391945.8:c.1998G>C	ENSP00000375809.3:p.Arg666=
ENST00000588652.5:n.2086G>C
NM_000400.3:c.1998G>C , LRG_461t1:c.1998G>C	NP_000391.1:p.Arg666=
XM_011526611.1:c.1920G>C	XP_011524913.1:p.Arg640=
XM_011526611.2:c.1920G>C	XP_011524913.1:p.Arg640=
XM_017026467.1:c.1875G>C	XP_016881956.1:p.Arg625=
XR_001753633.2:n.2045G>C
XR_001753634.2:n.1981G>C
NM_000400.4:c.1998G>C MANE Select	NP_000391.1:p.Arg666=