Canonical Allele Identifier: CA507953598

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45867332A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364074A>G , CM000681.2:g.45364074A>G	GRCh38
NC_000019.9:g.45867332A>G , CM000681.1:g.45867332A>G	GRCh37
NC_000019.8:g.50559172A>G	NCBI36
NG_007067.2:g.11514T>C , LRG_461:g.11514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.861T>C	ENSP00000375808.4:p.Arg287=
ENST00000682414.1:c.861T>C	ENSP00000507019.1:p.Arg287=
ENST00000682508.1:n.890T>C
ENST00000684218.1:c.*119T>C	ENSP00000507804.1:n.*119T>C
ENST00000684407.1:c.738T>C	ENSP00000507775.1:p.Arg246=
ENST00000684458.1:c.861T>C	ENSP00000508260.1:p.Arg287=
ENST00000391945.10:c.861T>C MANE Select	ENSP00000375809.4:p.Arg287=
ENST00000586131.6:c.789T>C	ENSP00000464887.1:p.Arg263=
ENST00000646507.1:n.958T>C
ENST00000391941.6:c.789T>C	ENSP00000375805.2:p.Arg263=
ENST00000391944.7:c.627T>C	ENSP00000375808.3:p.Arg209=
ENST00000391945.8:c.861T>C	ENSP00000375809.3:p.Arg287=
ENST00000485403.6:c.789T>C	ENSP00000431229.2:p.Arg263=
ENST00000586131.5:c.789T>C	ENSP00000464887.1:p.Arg263=
ENST00000591309.5:c.*119T>C	ENSP00000465207.1:n.*119T>C
NM_000400.3:c.861T>C , LRG_461t1:c.861T>C	NP_000391.1:p.Arg287=
NM_001130867.1:c.789T>C	NP_001124339.1:p.Arg263=
XM_011526611.1:c.783T>C	XP_011524913.1:p.Arg261=
XR_935763.1:n.908T>C
XM_011526611.2:c.783T>C	XP_011524913.1:p.Arg261=
XM_017026467.1:c.738T>C	XP_016881956.1:p.Arg246=
XR_001753633.2:n.908T>C
XR_001753634.2:n.908T>C
NM_000400.4:c.861T>C MANE Select	NP_000391.1:p.Arg287=
NM_001130867.2:c.789T>C	NP_001124339.1:p.Arg263=