Canonical Allele Identifier: CA406362981

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855804C>G (hg19) ; chr19:g.45352546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352546C>G , CM000681.2:g.45352546C>G	GRCh38
NC_000019.9:g.45855804C>G , CM000681.1:g.45855804C>G	GRCh37
NC_000019.8:g.50547644C>G	NCBI36
NG_007067.2:g.23042G>C , LRG_461:g.23042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2006G>C	ENSP00000375808.4:p.Arg669Thr
ENST00000682414.1:c.2006G>C	ENSP00000507019.1:p.Arg669Thr
ENST00000682508.1:n.2035G>C
ENST00000684218.1:c.*1264G>C	ENSP00000507804.1:n.*1264G>C
ENST00000684264.1:n.1562G>C
ENST00000684407.1:c.1883G>C	ENSP00000507775.1:p.Arg628Thr
ENST00000684458.1:c.*492G>C	ENSP00000508260.1:n.*492G>C
ENST00000684468.1:n.1718G>C
ENST00000391945.10:c.2006G>C MANE Select	ENSP00000375809.4:p.Arg669Thr
ENST00000646507.1:n.2103G>C
ENST00000391941.6:c.1934G>C	ENSP00000375805.2:p.Arg645Thr
ENST00000391942.6:n.1177G>C
ENST00000391944.7:c.1772G>C	ENSP00000375808.3:p.Arg591Thr
ENST00000391945.8:c.2006G>C	ENSP00000375809.3:p.Arg669Thr
ENST00000588652.5:n.2094G>C
NM_000400.3:c.2006G>C , LRG_461t1:c.2006G>C	NP_000391.1:p.Arg669Thr
XM_011526611.1:c.1928G>C	XP_011524913.1:p.Arg643Thr
XM_011526611.2:c.1928G>C	XP_011524913.1:p.Arg643Thr
XM_017026467.1:c.1883G>C	XP_016881956.1:p.Arg628Thr
XR_001753633.2:n.2053G>C
XR_001753634.2:n.1989G>C
NM_000400.4:c.2006G>C MANE Select	NP_000391.1:p.Arg669Thr