Canonical Allele Identifier: CA2338389493

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353454_45353461delinsTGTGGTGA , CM000681.2:g.45353454_45353461delinsTGTGGTGA	GRCh38
NC_000019.9:g.45856712_45856719delinsTGTGGTGA , CM000681.1:g.45856712_45856719delinsTGTGGTGA	GRCh37
NC_000019.8:g.50548552_50548559delinsTGTGGTGA	NCBI36
NG_007067.2:g.22127_22134delinsTCACCACA , LRG_461:g.22127_22134delinsTCACCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-127_1666-120delinsTCACCACA	ENSP00000375808.4:n.1666-127_1666-120delinsTCACCACA
ENST00000682414.1:c.1666-127_1666-120delinsTCACCACA	ENSP00000507019.1:n.1666-127_1666-120delinsTCACCACA
ENST00000682508.1:n.1695-127_1695-120delinsTCACCACA
ENST00000684218.1:c.*924-127_*924-120delinsTCACCACA	ENSP00000507804.1:n.*924-127_*924-120delinsTCACCACA
ENST00000684264.1:n.1222-127_1222-120delinsTCACCACA
ENST00000684407.1:c.1543-127_1543-120delinsTCACCACA	ENSP00000507775.1:n.1543-127_1543-120delinsTCACCACA
ENST00000684458.1:c.*152-127_*152-120delinsTCACCACA	ENSP00000508260.1:n.*152-127_*152-120delinsTCACCACA
ENST00000684468.1:n.1378-127_1378-120delinsTCACCACA
ENST00000391945.10:c.1666-127_1666-120delinsTCACCACA MANE Select	ENSP00000375809.4:n.1666-127_1666-120delinsTCACCACA
ENST00000587376.6:c.725-127_725-120delinsTCACCACA
ENST00000646507.1:n.1763-127_1763-120delinsTCACCACA
ENST00000391941.6:c.1594-127_1594-120delinsTCACCACA	ENSP00000375805.2:n.1594-127_1594-120delinsTCACCACA
ENST00000391942.6:n.837-127_837-120delinsTCACCACA
ENST00000391944.7:c.1432-127_1432-120delinsTCACCACA	ENSP00000375808.3:n.1432-127_1432-120delinsTCACCACA
ENST00000391945.8:c.1666-127_1666-120delinsTCACCACA	ENSP00000375809.3:n.1666-127_1666-120delinsTCACCACA
ENST00000587376.5:c.725-127_725-120delinsTCACCACA
ENST00000588652.5:n.1754-127_1754-120delinsTCACCACA
NM_000400.3:c.1666-127_1666-120delinsTCACCACA , LRG_461t1:c.1666-127_1666-120delinsTCACCACA	NP_000391.1:n.1666-127_1666-120delinsTCACCACA
XM_011526611.1:c.1588-127_1588-120delinsTCACCACA	XP_011524913.1:n.1588-127_1588-120delinsTCACCACA
XR_935763.1:n.1649-127_1649-120delinsTCACCACA
XM_011526611.2:c.1588-127_1588-120delinsTCACCACA	XP_011524913.1:n.1588-127_1588-120delinsTCACCACA
XM_017026467.1:c.1543-127_1543-120delinsTCACCACA	XP_016881956.1:n.1543-127_1543-120delinsTCACCACA
XR_001753633.2:n.1713-127_1713-120delinsTCACCACA
XR_001753634.2:n.1649-127_1649-120delinsTCACCACA
NM_000400.4:c.1666-127_1666-120delinsTCACCACA MANE Select	NP_000391.1:n.1666-127_1666-120delinsTCACCACA