Canonical Allele Identifier: CA2338389014

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352740_45352742delinsACT , CM000681.2:g.45352740_45352742delinsACT	GRCh38
NC_000019.9:g.45855998_45856000delinsACT , CM000681.1:g.45855998_45856000delinsACT	GRCh37
NC_000019.8:g.50547838_50547840delinsACT	NCBI36
NG_007067.2:g.22846_22848delinsAGT , LRG_461:g.22846_22848delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1902+4_1902+6delinsAGT	ENSP00000375808.4:n.1902+4_1902+6delinsAGT
ENST00000682414.1:c.1902+4_1902+6delinsAGT	ENSP00000507019.1:n.1902+4_1902+6delinsAGT
ENST00000682508.1:n.1931+4_1931+6delinsAGT
ENST00000684218.1:c.*1160+4_*1160+6delinsAGT	ENSP00000507804.1:n.*1160+4_*1160+6delinsAGT
ENST00000684264.1:n.1458+4_1458+6delinsAGT
ENST00000684407.1:c.1779+4_1779+6delinsAGT	ENSP00000507775.1:n.1779+4_1779+6delinsAGT
ENST00000684458.1:c.*388+4_*388+6delinsAGT	ENSP00000508260.1:n.*388+4_*388+6delinsAGT
ENST00000684468.1:n.1614+4_1614+6delinsAGT
ENST00000391945.10:c.1902+4_1902+6delinsAGT MANE Select	ENSP00000375809.4:n.1902+4_1902+6delinsAGT
ENST00000646507.1:n.1999+4_1999+6delinsAGT
ENST00000391941.6:c.1830+4_1830+6delinsAGT	ENSP00000375805.2:n.1830+4_1830+6delinsAGT
ENST00000391942.6:n.1073+4_1073+6delinsAGT
ENST00000391944.7:c.1668+4_1668+6delinsAGT	ENSP00000375808.3:n.1668+4_1668+6delinsAGT
ENST00000391945.8:c.1902+4_1902+6delinsAGT	ENSP00000375809.3:n.1902+4_1902+6delinsAGT
ENST00000588652.5:n.1990+4_1990+6delinsAGT
NM_000400.3:c.1902+4_1902+6delinsAGT , LRG_461t1:c.1902+4_1902+6delinsAGT	NP_000391.1:n.1902+4_1902+6delinsAGT
XM_011526611.1:c.1824+4_1824+6delinsAGT	XP_011524913.1:n.1824+4_1824+6delinsAGT
XM_011526611.2:c.1824+4_1824+6delinsAGT	XP_011524913.1:n.1824+4_1824+6delinsAGT
XM_017026467.1:c.1779+4_1779+6delinsAGT	XP_016881956.1:n.1779+4_1779+6delinsAGT
XR_001753633.2:n.1949+4_1949+6delinsAGT
XR_001753634.2:n.1885+4_1885+6delinsAGT
NM_000400.4:c.1902+4_1902+6delinsAGT MANE Select	NP_000391.1:n.1902+4_1902+6delinsAGT