Canonical Allele Identifier: CA2338388976

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352684_45352726delinsGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCT , CM000681.2:g.45352684_45352726delinsGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCT	GRCh38
NC_000019.9:g.45855942_45855984delinsGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCT , CM000681.1:g.45855942_45855984delinsGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCT	GRCh37
NC_000019.8:g.50547782_50547824delinsGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCT	NCBI36
NG_007067.2:g.22862_22904delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC , LRG_461:g.22862_22904delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	ENSP00000375808.4:n.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAG...
ENST00000682414.1:c.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	ENSP00000507019.1:n.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAG...
ENST00000682508.1:n.1931+20_1932-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC
ENST00000684218.1:c.*1160+20_*1161-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	ENSP00000507804.1:n.*1160+20_*1161-35delinsAGGGAGTCCCACAGTGTT...
ENST00000684264.1:n.1458+20_1459-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC
ENST00000684407.1:c.1779+20_1780-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	ENSP00000507775.1:n.1779+20_1780-35delinsAGGGAGTCCCACAGTGTTAG...
ENST00000684458.1:c.*388+20_*389-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	ENSP00000508260.1:n.*388+20_*389-35delinsAGGGAGTCCCACAGTGTTAG...
ENST00000684468.1:n.1614+20_1615-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC
ENST00000391945.10:c.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC MANE Select	ENSP00000375809.4:n.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAG...
ENST00000646507.1:n.1999+20_2000-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC
ENST00000391941.6:c.1830+20_1831-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	ENSP00000375805.2:n.1830+20_1831-35delinsAGGGAGTCCCACAGTGTTAG...
ENST00000391942.6:n.1073+20_1074-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC
ENST00000391944.7:c.1668+20_1669-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	ENSP00000375808.3:n.1668+20_1669-35delinsAGGGAGTCCCACAGTGTTAG...
ENST00000391945.8:c.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	ENSP00000375809.3:n.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAG...
ENST00000588652.5:n.1990+20_1991-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC
NM_000400.3:c.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC , LRG_461t1:c.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	NP_000391.1:n.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAA...
XM_011526611.1:c.1824+20_1825-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	XP_011524913.1:n.1824+20_1825-35delinsAGGGAGTCCCACAGTGTTAGGAT...
XM_011526611.2:c.1824+20_1825-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	XP_011524913.1:n.1824+20_1825-35delinsAGGGAGTCCCACAGTGTTAGGAT...
XM_017026467.1:c.1779+20_1780-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC	XP_016881956.1:n.1779+20_1780-35delinsAGGGAGTCCCACAGTGTTAGGAT...
XR_001753633.2:n.1949+20_1950-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC
XR_001753634.2:n.1885+20_1886-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC
NM_000400.4:c.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAAGGGAGGAGTGGCTCCCC MANE Select	NP_000391.1:n.1902+20_1903-35delinsAGGGAGTCCCACAGTGTTAGGATCAA...