Canonical Allele Identifier: CA9512803

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351665C>T , CM000681.2:g.45351665C>T	GRCh38
NC_000019.9:g.45854923C>T , CM000681.1:g.45854923C>T	GRCh37
NC_000019.8:g.50546763C>T	NCBI36
NG_007067.2:g.23923G>A , LRG_461:g.23923G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.2247G>A MANE Select	NP_000391.1:p.Thr749=
ENST00000391945.10:c.2247G>A MANE Select	ENSP00000375809.4:p.Thr749=
NM_000400.3:c.2247G>A , LRG_461t1:c.2247G>A	NP_000391.1:p.Thr749=
ENST00000391942.6:n.1418G>A
ENST00000391944.7:c.2013G>A	ENSP00000375808.3:p.Thr671=
ENST00000391944.8:c.*244G>A	ENSP00000375808.4:n.*244G>A
ENST00000391945.8:c.2247G>A	ENSP00000375809.3:p.Thr749=
ENST00000588652.5:n.2335G>A
ENST00000646507.1:n.2344G>A
ENST00000682414.1:c.2247G>A	ENSP00000507019.1:p.Thr749=
ENST00000682508.1:n.2276G>A
ENST00000684218.1:c.*1505G>A	ENSP00000507804.1:n.*1505G>A
ENST00000684264.1:n.1803G>A
ENST00000684407.1:c.2124G>A	ENSP00000507775.1:p.Thr708=
ENST00000684458.1:c.*733G>A	ENSP00000508260.1:n.*733G>A
ENST00000684468.1:n.1959G>A
XM_011526611.1:c.2169G>A	XP_011524913.1:p.Thr723=
XM_011526611.2:c.2169G>A	XP_011524913.1:p.Thr723=
XM_017026467.1:c.2124G>A	XP_016881956.1:p.Thr708=
XR_001753633.2:n.2294G>A