Canonical Allele Identifier: CA882710343

Gene: ERCC2

Linked Data

• dbSNP Id: rs1184028998
• gnomAD v3: 19-45364093-AG-A
• gnomAD v4: 19-45364093-AG-A
• MyVariant Identifiers: chr19:g.45867352del (hg19) ; chr19:g.45364094del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364095del , CM000681.2:g.45364095del	GRCh38
NC_000019.9:g.45867353del , CM000681.1:g.45867353del	GRCh37
NC_000019.8:g.50559193del	NCBI36
NG_007067.2:g.11494del , LRG_461:g.11494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.841del	ENSP00000375808.4:p.Leu281CysfsTer?
ENST00000682414.1:c.841del	ENSP00000507019.1:p.Leu281CysfsTer?
ENST00000682508.1:n.870del
ENST00000684218.1:c.*99del	ENSP00000507804.1:n.*99del
ENST00000684407.1:c.718del	ENSP00000507775.1:p.Leu240CysfsTer?
ENST00000684458.1:c.841del	ENSP00000508260.1:p.Leu281CysfsTer?
ENST00000391945.10:c.841del MANE Select	ENSP00000375809.4:p.Leu281CysfsTer?
ENST00000586131.6:c.769del	ENSP00000464887.1:p.Leu257CysfsTer?
ENST00000646507.1:n.938del
ENST00000391941.6:c.769del	ENSP00000375805.2:p.Leu257CysfsTer?
ENST00000391944.7:c.607del	ENSP00000375808.3:p.Leu203CysfsTer?
ENST00000391945.8:c.841del	ENSP00000375809.3:p.Leu281CysfsTer?
ENST00000485403.6:c.769del	ENSP00000431229.2:p.Leu257CysfsTer?
ENST00000586131.5:c.769del	ENSP00000464887.1:p.Leu257CysfsTer?
ENST00000586737.5:n.478del
ENST00000591309.5:c.*99del	ENSP00000465207.1:n.*99del
NM_000400.3:c.841del , LRG_461t1:c.841del	NP_000391.1:p.Leu281CysfsTer?
NM_001130867.1:c.769del	NP_001124339.1:p.Leu257CysfsTer?
XM_011526611.1:c.763del	XP_011524913.1:p.Leu255CysfsTer?
XR_935763.1:n.888del
XM_011526611.2:c.763del	XP_011524913.1:p.Leu255CysfsTer?
XM_017026467.1:c.718del	XP_016881956.1:p.Leu240CysfsTer?
XR_001753633.2:n.888del
XR_001753634.2:n.888del
NM_000400.4:c.841del MANE Select	NP_000391.1:p.Leu281CysfsTer?
NM_001130867.2:c.769del	NP_001124339.1:p.Leu257CysfsTer?