Canonical Allele Identifier: CA2585785567

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352538-T-TCTTGCCCCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352539_45352549dup , CM000681.2:g.45352539_45352549dup	GRCh38
NC_000019.9:g.45855797_45855807dup , CM000681.1:g.45855797_45855807dup	GRCh37
NC_000019.8:g.50547637_50547647dup	NCBI36
NG_007067.2:g.23039_23049dup , LRG_461:g.23039_23049dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2003_2013dup	ENSP00000375808.4:p.Thr672SerfsTer?
ENST00000682414.1:c.2003_2013dup	ENSP00000507019.1:p.Thr672SerfsTer?
ENST00000682508.1:n.2032_2042dup
ENST00000684218.1:c.*1261_*1271dup	ENSP00000507804.1:n.*1261_*1271dup
ENST00000684264.1:n.1559_1569dup
ENST00000684407.1:c.1880_1890dup	ENSP00000507775.1:p.Thr631SerfsTer?
ENST00000684458.1:c.*489_*499dup	ENSP00000508260.1:n.*489_*499dup
ENST00000684468.1:n.1715_1725dup
ENST00000391945.10:c.2003_2013dup MANE Select	ENSP00000375809.4:p.Thr672SerfsTer?
ENST00000646507.1:n.2100_2110dup
ENST00000391941.6:c.1931_1941dup	ENSP00000375805.2:p.Thr648SerfsTer?
ENST00000391942.6:n.1174_1184dup
ENST00000391944.7:c.1769_1779dup	ENSP00000375808.3:p.Thr594SerfsTer?
ENST00000391945.8:c.2003_2013dup	ENSP00000375809.3:p.Thr672SerfsTer?
ENST00000588652.5:n.2091_2101dup
NM_000400.3:c.2003_2013dup , LRG_461t1:c.2003_2013dup	NP_000391.1:p.Thr672SerfsTer?
XM_011526611.1:c.1925_1935dup	XP_011524913.1:p.Thr646SerfsTer?
XM_011526611.2:c.1925_1935dup	XP_011524913.1:p.Thr646SerfsTer?
XM_017026467.1:c.1880_1890dup	XP_016881956.1:p.Thr631SerfsTer?
XR_001753633.2:n.2050_2060dup
XR_001753634.2:n.1986_1996dup
NM_000400.4:c.2003_2013dup MANE Select	NP_000391.1:p.Thr672SerfsTer?