Canonical Allele Identifier: CA406367006

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860553A>C (hg19) ; chr19:g.45357295A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357295A>C , CM000681.2:g.45357295A>C	GRCh38
NC_000019.9:g.45860553A>C , CM000681.1:g.45860553A>C	GRCh37
NC_000019.8:g.50552393A>C	NCBI36
NG_007067.2:g.18293T>G , LRG_461:g.18293T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1454T>G	ENSP00000375808.4:p.Leu485Arg
ENST00000682414.1:c.1454T>G	ENSP00000507019.1:p.Leu485Arg
ENST00000682508.1:n.1483T>G
ENST00000684218.1:c.*712T>G	ENSP00000507804.1:n.*712T>G
ENST00000684264.1:n.1010T>G
ENST00000684407.1:c.1331T>G	ENSP00000507775.1:p.Leu444Arg
ENST00000684458.1:c.*4T>G	ENSP00000508260.1:n.*4T>G
ENST00000684468.1:n.1230T>G
ENST00000391945.10:c.1454T>G MANE Select	ENSP00000375809.4:p.Leu485Arg
ENST00000587376.6:c.577T>G
ENST00000646507.1:n.1551T>G
ENST00000391941.6:c.1382T>G	ENSP00000375805.2:p.Leu461Arg
ENST00000391942.6:n.625T>G
ENST00000391944.7:c.1220T>G	ENSP00000375808.3:p.Leu407Arg
ENST00000391945.8:c.1454T>G	ENSP00000375809.3:p.Leu485Arg
ENST00000587376.5:c.577T>G
ENST00000588652.5:n.1542T>G
NM_000400.3:c.1454T>G , LRG_461t1:c.1454T>G	NP_000391.1:p.Leu485Arg
XM_011526611.1:c.1376T>G	XP_011524913.1:p.Leu459Arg
XR_935763.1:n.1501T>G
XM_011526611.2:c.1376T>G	XP_011524913.1:p.Leu459Arg
XM_017026467.1:c.1331T>G	XP_016881956.1:p.Leu444Arg
XR_001753633.2:n.1501T>G
XR_001753634.2:n.1501T>G
NM_000400.4:c.1454T>G MANE Select	NP_000391.1:p.Leu485Arg