Canonical Allele Identifier: CA2338389495

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353454_45353467delinsTGTGGTGAGGGAGG , CM000681.2:g.45353454_45353467delinsTGTGGTGAGGGAGG	GRCh38
NC_000019.9:g.45856712_45856725delinsTGTGGTGAGGGAGG , CM000681.1:g.45856712_45856725delinsTGTGGTGAGGGAGG	GRCh37
NC_000019.8:g.50548552_50548565delinsTGTGGTGAGGGAGG	NCBI36
NG_007067.2:g.22121_22134delinsCCTCCCTCACCACA , LRG_461:g.22121_22134delinsCCTCCCTCACCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-133_1666-120delinsCCTCCCTCACCACA	ENSP00000375808.4:n.1666-133_1666-120delinsCCTCCCTCACCACA
ENST00000682414.1:c.1666-133_1666-120delinsCCTCCCTCACCACA	ENSP00000507019.1:n.1666-133_1666-120delinsCCTCCCTCACCACA
ENST00000682508.1:n.1695-133_1695-120delinsCCTCCCTCACCACA
ENST00000684218.1:c.*924-133_*924-120delinsCCTCCCTCACCACA	ENSP00000507804.1:n.*924-133_*924-120delinsCCTCCCTCACCACA
ENST00000684264.1:n.1222-133_1222-120delinsCCTCCCTCACCACA
ENST00000684407.1:c.1543-133_1543-120delinsCCTCCCTCACCACA	ENSP00000507775.1:n.1543-133_1543-120delinsCCTCCCTCACCACA
ENST00000684458.1:c.*152-133_*152-120delinsCCTCCCTCACCACA	ENSP00000508260.1:n.*152-133_*152-120delinsCCTCCCTCACCACA
ENST00000684468.1:n.1378-133_1378-120delinsCCTCCCTCACCACA
ENST00000391945.10:c.1666-133_1666-120delinsCCTCCCTCACCACA MANE Select	ENSP00000375809.4:n.1666-133_1666-120delinsCCTCCCTCACCACA
ENST00000587376.6:c.725-133_725-120delinsCCTCCCTCACCACA
ENST00000646507.1:n.1763-133_1763-120delinsCCTCCCTCACCACA
ENST00000391941.6:c.1594-133_1594-120delinsCCTCCCTCACCACA	ENSP00000375805.2:n.1594-133_1594-120delinsCCTCCCTCACCACA
ENST00000391942.6:n.837-133_837-120delinsCCTCCCTCACCACA
ENST00000391944.7:c.1432-133_1432-120delinsCCTCCCTCACCACA	ENSP00000375808.3:n.1432-133_1432-120delinsCCTCCCTCACCACA
ENST00000391945.8:c.1666-133_1666-120delinsCCTCCCTCACCACA	ENSP00000375809.3:n.1666-133_1666-120delinsCCTCCCTCACCACA
ENST00000587376.5:c.725-133_725-120delinsCCTCCCTCACCACA
ENST00000588652.5:n.1754-133_1754-120delinsCCTCCCTCACCACA
NM_000400.3:c.1666-133_1666-120delinsCCTCCCTCACCACA , LRG_461t1:c.1666-133_1666-120delinsCCTCCCTCACCACA	NP_000391.1:n.1666-133_1666-120delinsCCTCCCTCACCACA
XM_011526611.1:c.1588-133_1588-120delinsCCTCCCTCACCACA	XP_011524913.1:n.1588-133_1588-120delinsCCTCCCTCACCACA
XR_935763.1:n.1649-133_1649-120delinsCCTCCCTCACCACA
XM_011526611.2:c.1588-133_1588-120delinsCCTCCCTCACCACA	XP_011524913.1:n.1588-133_1588-120delinsCCTCCCTCACCACA
XM_017026467.1:c.1543-133_1543-120delinsCCTCCCTCACCACA	XP_016881956.1:n.1543-133_1543-120delinsCCTCCCTCACCACA
XR_001753633.2:n.1713-133_1713-120delinsCCTCCCTCACCACA
XR_001753634.2:n.1649-133_1649-120delinsCCTCCCTCACCACA
NM_000400.4:c.1666-133_1666-120delinsCCTCCCTCACCACA MANE Select	NP_000391.1:n.1666-133_1666-120delinsCCTCCCTCACCACA