Canonical Allele Identifier: CA2585785722

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352940-C-CTAGGGACAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352941_45352951dup , CM000681.2:g.45352941_45352951dup	GRCh38
NC_000019.9:g.45856199_45856209dup , CM000681.1:g.45856199_45856209dup	GRCh37
NC_000019.8:g.50548039_50548049dup	NCBI36
NG_007067.2:g.22637_22647dup , LRG_461:g.22637_22647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1831+132_1832-125dup	ENSP00000375808.4:n.1831+132_1832-125dup
ENST00000682414.1:c.1831+132_1832-125dup	ENSP00000507019.1:n.1831+132_1832-125dup
ENST00000682508.1:n.1860+132_1861-125dup
ENST00000684218.1:c.*1089+132_*1090-125dup	ENSP00000507804.1:n.*1089+132_*1090-125dup
ENST00000684264.1:n.1387+132_1388-125dup
ENST00000684407.1:c.1708+132_1709-125dup	ENSP00000507775.1:n.1708+132_1709-125dup
ENST00000684458.1:c.*317+132_*318-125dup	ENSP00000508260.1:n.*317+132_*318-125dup
ENST00000684468.1:n.1543+132_1544-125dup
ENST00000391945.10:c.1831+132_1832-125dup MANE Select	ENSP00000375809.4:n.1831+132_1832-125dup
ENST00000646507.1:n.1928+132_1929-125dup
ENST00000391941.6:c.1759+132_1760-125dup	ENSP00000375805.2:n.1759+132_1760-125dup
ENST00000391942.6:n.1002+132_1003-125dup
ENST00000391944.7:c.1597+132_1598-125dup	ENSP00000375808.3:n.1597+132_1598-125dup
ENST00000391945.8:c.1831+132_1832-125dup	ENSP00000375809.3:n.1831+132_1832-125dup
ENST00000588652.5:n.1919+132_1920-125dup
NM_000400.3:c.1831+132_1832-125dup , LRG_461t1:c.1831+132_1832-125dup	NP_000391.1:n.1831+132_1832-125dup
XM_011526611.1:c.1753+132_1754-125dup	XP_011524913.1:n.1753+132_1754-125dup
XM_011526611.2:c.1753+132_1754-125dup	XP_011524913.1:n.1753+132_1754-125dup
XM_017026467.1:c.1708+132_1709-125dup	XP_016881956.1:n.1708+132_1709-125dup
XR_001753633.2:n.1878+132_1879-125dup
XR_001753634.2:n.1814+132_1815-125dup
NM_000400.4:c.1831+132_1832-125dup MANE Select	NP_000391.1:n.1831+132_1832-125dup