Canonical Allele Identifier: CA406363549

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855888C>G (hg19) ; chr19:g.45352630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352630C>G , CM000681.2:g.45352630C>G	GRCh38
NC_000019.9:g.45855888C>G , CM000681.1:g.45855888C>G	GRCh37
NC_000019.8:g.50547728C>G	NCBI36
NG_007067.2:g.22958G>C , LRG_461:g.22958G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1922G>C	ENSP00000375808.4:p.Arg641Pro
ENST00000682414.1:c.1922G>C	ENSP00000507019.1:p.Arg641Pro
ENST00000682508.1:n.1951G>C
ENST00000684218.1:c.*1180G>C	ENSP00000507804.1:n.*1180G>C
ENST00000684264.1:n.1478G>C
ENST00000684407.1:c.1799G>C	ENSP00000507775.1:p.Arg600Pro
ENST00000684458.1:c.*408G>C	ENSP00000508260.1:n.*408G>C
ENST00000684468.1:n.1634G>C
ENST00000391945.10:c.1922G>C MANE Select	ENSP00000375809.4:p.Arg641Pro
ENST00000646507.1:n.2019G>C
ENST00000391941.6:c.1850G>C	ENSP00000375805.2:p.Arg617Pro
ENST00000391942.6:n.1093G>C
ENST00000391944.7:c.1688G>C	ENSP00000375808.3:p.Arg563Pro
ENST00000391945.8:c.1922G>C	ENSP00000375809.3:p.Arg641Pro
ENST00000588652.5:n.2010G>C
NM_000400.3:c.1922G>C , LRG_461t1:c.1922G>C	NP_000391.1:p.Arg641Pro
XM_011526611.1:c.1844G>C	XP_011524913.1:p.Arg615Pro
XM_011526611.2:c.1844G>C	XP_011524913.1:p.Arg615Pro
XM_017026467.1:c.1799G>C	XP_016881956.1:p.Arg600Pro
XR_001753633.2:n.1969G>C
XR_001753634.2:n.1905G>C
NM_000400.4:c.1922G>C MANE Select	NP_000391.1:p.Arg641Pro