Canonical Allele Identifier: CA9513073

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353109C>T , CM000681.2:g.45353109C>T	GRCh38
NC_000019.9:g.45856367C>T , CM000681.1:g.45856367C>T	GRCh37
NC_000019.8:g.50548207C>T	NCBI36
NG_007067.2:g.22479G>A , LRG_461:g.22479G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1805G>A MANE Select	NP_000391.1:p.Gly602Asp
ENST00000391945.10:c.1805G>A MANE Select	ENSP00000375809.4:p.Gly602Asp
NM_000400.3:c.1805G>A , LRG_461t1:c.1805G>A	NP_000391.1:p.Gly602Asp
ENST00000391941.6:c.1733G>A	ENSP00000375805.2:p.Gly578Asp
ENST00000391942.6:n.976G>A
ENST00000391944.7:c.1571G>A	ENSP00000375808.3:p.Gly524Asp
ENST00000391944.8:c.1805G>A	ENSP00000375808.4:p.Gly602Asp
ENST00000391945.8:c.1805G>A	ENSP00000375809.3:p.Gly602Asp
ENST00000588652.5:n.1893G>A
ENST00000646507.1:n.1902G>A
ENST00000682414.1:c.1805G>A	ENSP00000507019.1:p.Gly602Asp
ENST00000682508.1:n.1834G>A
ENST00000684218.1:c.*1063G>A	ENSP00000507804.1:n.*1063G>A
ENST00000684264.1:n.1361G>A
ENST00000684407.1:c.1682G>A	ENSP00000507775.1:p.Gly561Asp
ENST00000684458.1:c.*291G>A	ENSP00000508260.1:n.*291G>A
ENST00000684468.1:n.1517G>A
XM_011526611.1:c.1727G>A	XP_011524913.1:p.Gly576Asp
XM_011526611.2:c.1727G>A	XP_011524913.1:p.Gly576Asp
XM_017026467.1:c.1682G>A	XP_016881956.1:p.Gly561Asp
XR_001753633.2:n.1852G>A
XR_001753634.2:n.1788G>A