Canonical Allele Identifier: CA2576816095

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352767_45352768dup , CM000681.2:g.45352767_45352768dup	GRCh38
NC_000019.9:g.45856025_45856026dup , CM000681.1:g.45856025_45856026dup	GRCh37
NC_000019.8:g.50547865_50547866dup	NCBI36
NG_007067.2:g.22825_22826dup , LRG_461:g.22825_22826dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1885_1886dup	ENSP00000375808.4:p.Gln629HisfsTer?
ENST00000682414.1:c.1885_1886dup	ENSP00000507019.1:p.Gln629HisfsTer?
ENST00000682508.1:n.1914_1915dup
ENST00000684218.1:c.*1143_*1144dup	ENSP00000507804.1:n.*1143_*1144dup
ENST00000684264.1:n.1441_1442dup
ENST00000684407.1:c.1762_1763dup	ENSP00000507775.1:p.Gln588HisfsTer?
ENST00000684458.1:c.*371_*372dup	ENSP00000508260.1:n.*371_*372dup
ENST00000684468.1:n.1597_1598dup
ENST00000391945.10:c.1885_1886dup MANE Select	ENSP00000375809.4:p.Gln629HisfsTer?
ENST00000646507.1:n.1982_1983dup
ENST00000391941.6:c.1813_1814dup	ENSP00000375805.2:p.Gln605HisfsTer?
ENST00000391942.6:n.1056_1057dup
ENST00000391944.7:c.1651_1652dup	ENSP00000375808.3:p.Gln551HisfsTer?
ENST00000391945.8:c.1885_1886dup	ENSP00000375809.3:p.Gln629HisfsTer?
ENST00000588652.5:n.1973_1974dup
NM_000400.3:c.1885_1886dup , LRG_461t1:c.1885_1886dup	NP_000391.1:p.Gln629HisfsTer?
XM_011526611.1:c.1807_1808dup	XP_011524913.1:p.Gln603HisfsTer?
XM_011526611.2:c.1807_1808dup	XP_011524913.1:p.Gln603HisfsTer?
XM_017026467.1:c.1762_1763dup	XP_016881956.1:p.Gln588HisfsTer?
XR_001753633.2:n.1932_1933dup
XR_001753634.2:n.1868_1869dup
NM_000400.4:c.1885_1886dup MANE Select	NP_000391.1:p.Gln629HisfsTer?