Canonical Allele Identifier: CA406367027

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860559A>C (hg19) ; chr19:g.45357301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357301A>C , CM000681.2:g.45357301A>C	GRCh38
NC_000019.9:g.45860559A>C , CM000681.1:g.45860559A>C	GRCh37
NC_000019.8:g.50552399A>C	NCBI36
NG_007067.2:g.18287T>G , LRG_461:g.18287T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1448T>G	ENSP00000375808.4:p.Met483Arg
ENST00000682414.1:c.1448T>G	ENSP00000507019.1:p.Met483Arg
ENST00000682508.1:n.1477T>G
ENST00000684218.1:c.*706T>G	ENSP00000507804.1:n.*706T>G
ENST00000684264.1:n.1004T>G
ENST00000684407.1:c.1325T>G	ENSP00000507775.1:p.Met442Arg
ENST00000684458.1:c.1378T>G	ENSP00000508260.1:p.Ter460Gly
ENST00000684468.1:n.1224T>G
ENST00000391945.10:c.1448T>G MANE Select	ENSP00000375809.4:p.Met483Arg
ENST00000587376.6:c.571T>G
ENST00000646507.1:n.1545T>G
ENST00000391941.6:c.1376T>G	ENSP00000375805.2:p.Met459Arg
ENST00000391942.6:n.619T>G
ENST00000391944.7:c.1214T>G	ENSP00000375808.3:p.Met405Arg
ENST00000391945.8:c.1448T>G	ENSP00000375809.3:p.Met483Arg
ENST00000587376.5:c.571T>G
ENST00000588652.5:n.1536T>G
NM_000400.3:c.1448T>G , LRG_461t1:c.1448T>G	NP_000391.1:p.Met483Arg
XM_011526611.1:c.1370T>G	XP_011524913.1:p.Met457Arg
XR_935763.1:n.1495T>G
XM_011526611.2:c.1370T>G	XP_011524913.1:p.Met457Arg
XM_017026467.1:c.1325T>G	XP_016881956.1:p.Met442Arg
XR_001753633.2:n.1495T>G
XR_001753634.2:n.1495T>G
NM_000400.4:c.1448T>G MANE Select	NP_000391.1:p.Met483Arg