Canonical Allele Identifier: CA996295550

Gene: ERCC2

Linked Data

• gnomAD v3: 19-45352789-ATGATGACGGC-A
• gnomAD v4: 19-45352789-ATGATGACGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352790_45352799del , CM000681.2:g.45352790_45352799del	GRCh38
NC_000019.9:g.45856048_45856057del , CM000681.1:g.45856048_45856057del	GRCh37
NC_000019.8:g.50547888_50547897del	NCBI36
NG_007067.2:g.22789_22798del , LRG_461:g.22789_22798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1849_1858del	ENSP00000375808.4:p.Ala617CysfsTer?
ENST00000682414.1:c.1849_1858del	ENSP00000507019.1:p.Ala617CysfsTer?
ENST00000682508.1:n.1878_1887del
ENST00000684218.1:c.*1107_*1116del	ENSP00000507804.1:n.*1107_*1116del
ENST00000684264.1:n.1405_1414del
ENST00000684407.1:c.1726_1735del	ENSP00000507775.1:p.Ala576CysfsTer?
ENST00000684458.1:c.*335_*344del	ENSP00000508260.1:n.*335_*344del
ENST00000684468.1:n.1561_1570del
ENST00000391945.10:c.1849_1858del MANE Select	ENSP00000375809.4:p.Ala617CysfsTer?
ENST00000646507.1:n.1946_1955del
ENST00000391941.6:c.1777_1786del	ENSP00000375805.2:p.Ala593CysfsTer?
ENST00000391942.6:n.1020_1029del
ENST00000391944.7:c.1615_1624del	ENSP00000375808.3:p.Ala539CysfsTer?
ENST00000391945.8:c.1849_1858del	ENSP00000375809.3:p.Ala617CysfsTer?
ENST00000588652.5:n.1937_1946del
NM_000400.3:c.1849_1858del , LRG_461t1:c.1849_1858del	NP_000391.1:p.Ala617CysfsTer?
XM_011526611.1:c.1771_1780del	XP_011524913.1:p.Ala591CysfsTer?
XM_011526611.2:c.1771_1780del	XP_011524913.1:p.Ala591CysfsTer?
XM_017026467.1:c.1726_1735del	XP_016881956.1:p.Ala576CysfsTer?
XR_001753633.2:n.1896_1905del
XR_001753634.2:n.1832_1841del
NM_000400.4:c.1849_1858del MANE Select	NP_000391.1:p.Ala617CysfsTer?