Canonical Allele Identifier: CA996295108

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971828515
• gnomAD v3: 19-45352237-A-AG
• gnomAD v4: 19-45352237-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352239dup , CM000681.2:g.45352239dup	GRCh38
NC_000019.9:g.45855497dup , CM000681.1:g.45855497dup	GRCh37
NC_000019.8:g.50547337dup	NCBI36
NG_007067.2:g.23350dup , LRG_461:g.23350dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2161dup	ENSP00000375808.4:p.Leu721ProfsTer?
ENST00000682414.1:c.2161dup	ENSP00000507019.1:p.Leu721ProfsTer?
ENST00000682508.1:n.2190dup
ENST00000684218.1:c.*1419dup	ENSP00000507804.1:n.*1419dup
ENST00000684264.1:n.1717dup
ENST00000684407.1:c.2038dup	ENSP00000507775.1:p.Leu680ProfsTer?
ENST00000684458.1:c.*647dup	ENSP00000508260.1:n.*647dup
ENST00000684468.1:n.1873dup
ENST00000391945.10:c.2161dup MANE Select	ENSP00000375809.4:p.Leu721ProfsTer?
ENST00000646507.1:n.2258dup
ENST00000391941.6:c.2089dup	ENSP00000375805.2:p.Leu697ProfsTer?
ENST00000391942.6:n.1332dup
ENST00000391944.7:c.1927dup	ENSP00000375808.3:p.Leu643ProfsTer?
ENST00000391945.8:c.2161dup	ENSP00000375809.3:p.Leu721ProfsTer?
ENST00000588652.5:n.2249dup
NM_000400.3:c.2161dup , LRG_461t1:c.2161dup	NP_000391.1:p.Leu721ProfsTer?
XM_011526611.1:c.2083dup	XP_011524913.1:p.Leu695ProfsTer?
XM_011526611.2:c.2083dup	XP_011524913.1:p.Leu695ProfsTer?
XM_017026467.1:c.2038dup	XP_016881956.1:p.Leu680ProfsTer?
XR_001753633.2:n.2208dup
XR_001753634.2:n.2144dup
NM_000400.4:c.2161dup MANE Select	NP_000391.1:p.Leu721ProfsTer?