Canonical Allele Identifier: CA507818652

Gene: ERCC2

Linked Data

• dbSNP Id: rs1343178605
• gnomAD v2: 19-45855491-C-T
• gnomAD v4: 19-45352233-C-T
• MyVariant Identifiers: chr19:g.45855491C>T (hg19) ; chr19:g.45352233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352233C>T , CM000681.2:g.45352233C>T	GRCh38
NC_000019.9:g.45855491C>T , CM000681.1:g.45855491C>T	GRCh37
NC_000019.8:g.50547331C>T	NCBI36
NG_007067.2:g.23355G>A , LRG_461:g.23355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2166G>A	ENSP00000375808.4:p.Arg722=
ENST00000682414.1:c.2166G>A	ENSP00000507019.1:p.Arg722=
ENST00000682508.1:n.2195G>A
ENST00000684218.1:c.*1424G>A	ENSP00000507804.1:n.*1424G>A
ENST00000684264.1:n.1722G>A
ENST00000684407.1:c.2043G>A	ENSP00000507775.1:p.Arg681=
ENST00000684458.1:c.*652G>A	ENSP00000508260.1:n.*652G>A
ENST00000684468.1:n.1878G>A
ENST00000391945.10:c.2166G>A MANE Select	ENSP00000375809.4:p.Arg722=
ENST00000646507.1:n.2263G>A
ENST00000391941.6:c.2094G>A	ENSP00000375805.2:p.Arg698=
ENST00000391942.6:n.1337G>A
ENST00000391944.7:c.1932G>A	ENSP00000375808.3:p.Arg644=
ENST00000391945.8:c.2166G>A	ENSP00000375809.3:p.Arg722=
ENST00000588652.5:n.2254G>A
NM_000400.3:c.2166G>A , LRG_461t1:c.2166G>A	NP_000391.1:p.Arg722=
XM_011526611.1:c.2088G>A	XP_011524913.1:p.Arg696=
XM_011526611.2:c.2088G>A	XP_011524913.1:p.Arg696=
XM_017026467.1:c.2043G>A	XP_016881956.1:p.Arg681=
XR_001753633.2:n.2213G>A
XR_001753634.2:n.2149G>A
NM_000400.4:c.2166G>A MANE Select	NP_000391.1:p.Arg722=