Canonical Allele Identifier: CA2814539597

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352933_45353003del , CM000681.2:g.45352933_45353003del	GRCh38
NC_000019.9:g.45856191_45856261del , CM000681.1:g.45856191_45856261del	GRCh37
NC_000019.8:g.50548031_50548101del	NCBI36
NG_007067.2:g.22590_22660del , LRG_461:g.22590_22660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1831+85_1832-112del	ENSP00000375808.4:n.1831+85_1832-112del
ENST00000682414.1:c.1831+85_1832-112del	ENSP00000507019.1:n.1831+85_1832-112del
ENST00000682508.1:n.1860+85_1861-112del
ENST00000684218.1:c.*1089+85_*1090-112del	ENSP00000507804.1:n.*1089+85_*1090-112del
ENST00000684264.1:n.1387+85_1388-112del
ENST00000684407.1:c.1708+85_1709-112del	ENSP00000507775.1:n.1708+85_1709-112del
ENST00000684458.1:c.*317+85_*318-112del	ENSP00000508260.1:n.*317+85_*318-112del
ENST00000684468.1:n.1543+85_1544-112del
ENST00000391945.10:c.1831+85_1832-112del MANE Select	ENSP00000375809.4:n.1831+85_1832-112del
ENST00000646507.1:n.1928+85_1929-112del
ENST00000391941.6:c.1759+85_1760-112del	ENSP00000375805.2:n.1759+85_1760-112del
ENST00000391942.6:n.1002+85_1003-112del
ENST00000391944.7:c.1597+85_1598-112del	ENSP00000375808.3:n.1597+85_1598-112del
ENST00000391945.8:c.1831+85_1832-112del	ENSP00000375809.3:n.1831+85_1832-112del
ENST00000588652.5:n.1919+85_1920-112del
NM_000400.3:c.1831+85_1832-112del , LRG_461t1:c.1831+85_1832-112del	NP_000391.1:n.1831+85_1832-112del
XM_011526611.1:c.1753+85_1754-112del	XP_011524913.1:n.1753+85_1754-112del
XM_011526611.2:c.1753+85_1754-112del	XP_011524913.1:n.1753+85_1754-112del
XM_017026467.1:c.1708+85_1709-112del	XP_016881956.1:n.1708+85_1709-112del
XR_001753633.2:n.1878+85_1879-112del
XR_001753634.2:n.1814+85_1815-112del
NM_000400.4:c.1831+85_1832-112del MANE Select	NP_000391.1:n.1831+85_1832-112del