Canonical Allele Identifier: CA996295473

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971856612
• gnomAD v3: 19-45352759-CT-C
• gnomAD v4: 19-45352759-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352760del , CM000681.2:g.45352760del	GRCh38
NC_000019.9:g.45856018del , CM000681.1:g.45856018del	GRCh37
NC_000019.8:g.50547858del	NCBI36
NG_007067.2:g.22828del , LRG_461:g.22828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1888del	ENSP00000375808.4:p.Ser630AlafsTer?
ENST00000682414.1:c.1888del	ENSP00000507019.1:p.Ser630AlafsTer?
ENST00000682508.1:n.1917del
ENST00000684218.1:c.*1146del	ENSP00000507804.1:n.*1146del
ENST00000684264.1:n.1444del
ENST00000684407.1:c.1765del	ENSP00000507775.1:p.Ser589AlafsTer?
ENST00000684458.1:c.*374del	ENSP00000508260.1:n.*374del
ENST00000684468.1:n.1600del
ENST00000391945.10:c.1888del MANE Select	ENSP00000375809.4:p.Ser630AlafsTer?
ENST00000646507.1:n.1985del
ENST00000391941.6:c.1816del	ENSP00000375805.2:p.Ser606AlafsTer?
ENST00000391942.6:n.1059del
ENST00000391944.7:c.1654del	ENSP00000375808.3:p.Ser552AlafsTer?
ENST00000391945.8:c.1888del	ENSP00000375809.3:p.Ser630AlafsTer?
ENST00000588652.5:n.1976del
NM_000400.3:c.1888del , LRG_461t1:c.1888del	NP_000391.1:p.Ser630AlafsTer?
XM_011526611.1:c.1810del	XP_011524913.1:p.Ser604AlafsTer?
XM_011526611.2:c.1810del	XP_011524913.1:p.Ser604AlafsTer?
XM_017026467.1:c.1765del	XP_016881956.1:p.Ser589AlafsTer?
XR_001753633.2:n.1935del
XR_001753634.2:n.1871del
NM_000400.4:c.1888del MANE Select	NP_000391.1:p.Ser630AlafsTer?