Canonical Allele Identifier: CA9512895

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1785393
• ClinVar RCV Id: RCV002422142 ; RCV003720610
• dbSNP Id: rs763468590
• ExAC: 19:45855587 C / T
• gnomAD v2: 19-45855587-C-T
• gnomAD v3: 19-45352329-C-T
• gnomAD v4: 19-45352329-C-T
• MyVariant Identifiers: chr19:g.45855587C>T (hg19) ; chr19:g.45352329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352329C>T , CM000681.2:g.45352329C>T	GRCh38
NC_000019.9:g.45855587C>T , CM000681.1:g.45855587C>T	GRCh37
NC_000019.8:g.50547427C>T	NCBI36
NG_007067.2:g.23259G>A , LRG_461:g.23259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2070G>A	ENSP00000375808.4:p.Arg690=
ENST00000682414.1:c.2070G>A	ENSP00000507019.1:p.Arg690=
ENST00000682508.1:n.2099G>A
ENST00000684218.1:c.*1328G>A	ENSP00000507804.1:n.*1328G>A
ENST00000684264.1:n.1626G>A
ENST00000684407.1:c.1947G>A	ENSP00000507775.1:p.Arg649=
ENST00000684458.1:c.*556G>A	ENSP00000508260.1:n.*556G>A
ENST00000684468.1:n.1782G>A
ENST00000391945.10:c.2070G>A MANE Select	ENSP00000375809.4:p.Arg690=
ENST00000646507.1:n.2167G>A
ENST00000391941.6:c.1998G>A	ENSP00000375805.2:p.Arg666=
ENST00000391942.6:n.1241G>A
ENST00000391944.7:c.1836G>A	ENSP00000375808.3:p.Arg612=
ENST00000391945.8:c.2070G>A	ENSP00000375809.3:p.Arg690=
ENST00000588652.5:n.2158G>A
NM_000400.3:c.2070G>A , LRG_461t1:c.2070G>A	NP_000391.1:p.Arg690=
XM_011526611.1:c.1992G>A	XP_011524913.1:p.Arg664=
XM_011526611.2:c.1992G>A	XP_011524913.1:p.Arg664=
XM_017026467.1:c.1947G>A	XP_016881956.1:p.Arg649=
XR_001753633.2:n.2117G>A
XR_001753634.2:n.2053G>A
NM_000400.4:c.2070G>A MANE Select	NP_000391.1:p.Arg690=