Canonical Allele Identifier: CA633479912

Gene: ERCC2

Linked Data

• dbSNP Id: rs1187595101
• gnomAD v2: 19-45855594-TC-T
• gnomAD v4: 19-45352336-TC-T
• MyVariant Identifiers: chr19:g.45855595del (hg19) ; chr19:g.45352337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352340del , CM000681.2:g.45352340del	GRCh38
NC_000019.9:g.45855598del , CM000681.1:g.45855598del	GRCh37
NC_000019.8:g.50547438del	NCBI36
NG_007067.2:g.23251del , LRG_461:g.23251del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2062del	ENSP00000375808.4:p.Asp688ThrfsTer21
ENST00000682414.1:c.2062del	ENSP00000507019.1:p.Asp688ThrfsTer21
ENST00000682508.1:n.2091del
ENST00000684218.1:c.*1320del	ENSP00000507804.1:n.*1320del
ENST00000684264.1:n.1618del
ENST00000684407.1:c.1939del	ENSP00000507775.1:p.Asp647ThrfsTer21
ENST00000684458.1:c.*548del	ENSP00000508260.1:n.*548del
ENST00000684468.1:n.1774del
ENST00000391945.10:c.2062del MANE Select	ENSP00000375809.4:p.Asp688ThrfsTer21
ENST00000646507.1:n.2159del
ENST00000391941.6:c.1990del	ENSP00000375805.2:p.Asp664ThrfsTer21
ENST00000391942.6:n.1233del
ENST00000391944.7:c.1828del	ENSP00000375808.3:p.Asp610ThrfsTer21
ENST00000391945.8:c.2062del	ENSP00000375809.3:p.Asp688ThrfsTer21
ENST00000588652.5:n.2150del
NM_000400.3:c.2062del , LRG_461t1:c.2062del	NP_000391.1:p.Asp688ThrfsTer21
XM_011526611.1:c.1984del	XP_011524913.1:p.Asp662ThrfsTer21
XM_011526611.2:c.1984del	XP_011524913.1:p.Asp662ThrfsTer21
XM_017026467.1:c.1939del	XP_016881956.1:p.Asp647ThrfsTer21
XR_001753633.2:n.2109del
XR_001753634.2:n.2045del
NM_000400.4:c.2062del MANE Select	NP_000391.1:p.Asp688ThrfsTer21