Canonical Allele Identifier: CA507953351

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855773A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352515A>G , CM000681.2:g.45352515A>G	GRCh38
NC_000019.9:g.45855773A>G , CM000681.1:g.45855773A>G	GRCh37
NC_000019.8:g.50547613A>G	NCBI36
NG_007067.2:g.23073T>C , LRG_461:g.23073T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2037T>C	ENSP00000375808.4:p.Phe679=
ENST00000682414.1:c.2037T>C	ENSP00000507019.1:p.Phe679=
ENST00000682508.1:n.2066T>C
ENST00000684218.1:c.*1295T>C	ENSP00000507804.1:n.*1295T>C
ENST00000684264.1:n.1593T>C
ENST00000684407.1:c.1914T>C	ENSP00000507775.1:p.Phe638=
ENST00000684458.1:c.*523T>C	ENSP00000508260.1:n.*523T>C
ENST00000684468.1:n.1749T>C
ENST00000391945.10:c.2037T>C MANE Select	ENSP00000375809.4:p.Phe679=
ENST00000646507.1:n.2134T>C
ENST00000391941.6:c.1965T>C	ENSP00000375805.2:p.Phe655=
ENST00000391942.6:n.1208T>C
ENST00000391944.7:c.1803T>C	ENSP00000375808.3:p.Phe601=
ENST00000391945.8:c.2037T>C	ENSP00000375809.3:p.Phe679=
ENST00000588652.5:n.2125T>C
NM_000400.3:c.2037T>C , LRG_461t1:c.2037T>C	NP_000391.1:p.Phe679=
XM_011526611.1:c.1959T>C	XP_011524913.1:p.Phe653=
XM_011526611.2:c.1959T>C	XP_011524913.1:p.Phe653=
XM_017026467.1:c.1914T>C	XP_016881956.1:p.Phe638=
XR_001753633.2:n.2084T>C
XR_001753634.2:n.2020T>C
NM_000400.4:c.2037T>C MANE Select	NP_000391.1:p.Phe679=