Canonical Allele Identifier: CA9513173

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45354740C>T , CM000681.2:g.45354740C>T	GRCh38
NC_000019.9:g.45857998C>T , CM000681.1:g.45857998C>T	GRCh37
NC_000019.8:g.50549838C>T	NCBI36
NG_007067.2:g.20848G>A , LRG_461:g.20848G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1655G>A MANE Select	NP_000391.1:p.Trp552Ter
ENST00000391945.10:c.1655G>A MANE Select	ENSP00000375809.4:p.Trp552Ter
NM_000400.3:c.1655G>A , LRG_461t1:c.1655G>A	NP_000391.1:p.Trp552Ter
ENST00000391941.6:c.1583G>A	ENSP00000375805.2:p.Trp528Ter
ENST00000391942.6:n.826G>A
ENST00000391944.7:c.1421G>A	ENSP00000375808.3:p.Trp474Ter
ENST00000391944.8:c.1655G>A	ENSP00000375808.4:p.Trp552Ter
ENST00000391945.8:c.1655G>A	ENSP00000375809.3:p.Trp552Ter
ENST00000587376.5:c.714G>A
ENST00000587376.6:c.714G>A
ENST00000588652.5:n.1743G>A
ENST00000646507.1:n.1752G>A
ENST00000682414.1:c.1655G>A	ENSP00000507019.1:p.Trp552Ter
ENST00000682508.1:n.1684G>A
ENST00000684218.1:c.*913G>A	ENSP00000507804.1:n.*913G>A
ENST00000684264.1:n.1211G>A
ENST00000684407.1:c.1532G>A	ENSP00000507775.1:p.Trp511Ter
ENST00000684458.1:c.*141G>A	ENSP00000508260.1:n.*141G>A
ENST00000684468.1:n.1367G>A
XM_011526611.1:c.1577G>A	XP_011524913.1:p.Trp526Ter
XM_011526611.2:c.1577G>A	XP_011524913.1:p.Trp526Ter
XM_017026467.1:c.1532G>A	XP_016881956.1:p.Trp511Ter
XR_001753633.2:n.1702G>A
XR_001753634.2:n.1638G>A
XR_935763.1:n.1638G>A