Canonical Allele Identifier: CA507953336

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1785172
• ClinVar RCV Id: RCV002421921 ; RCV003720608
• dbSNP Id: rs1395186004
• gnomAD v3: 19-45352341-A-C
• gnomAD v4: 19-45352341-A-C
• MyVariant Identifiers: chr19:g.45855599A>C (hg19) ; chr19:g.45352341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352341A>C , CM000681.2:g.45352341A>C	GRCh38
NC_000019.9:g.45855599A>C , CM000681.1:g.45855599A>C	GRCh37
NC_000019.8:g.50547439A>C	NCBI36
NG_007067.2:g.23247T>G , LRG_461:g.23247T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2058T>G	ENSP00000375808.4:p.Arg686=
ENST00000682414.1:c.2058T>G	ENSP00000507019.1:p.Arg686=
ENST00000682508.1:n.2087T>G
ENST00000684218.1:c.*1316T>G	ENSP00000507804.1:n.*1316T>G
ENST00000684264.1:n.1614T>G
ENST00000684407.1:c.1935T>G	ENSP00000507775.1:p.Arg645=
ENST00000684458.1:c.*544T>G	ENSP00000508260.1:n.*544T>G
ENST00000684468.1:n.1770T>G
ENST00000391945.10:c.2058T>G MANE Select	ENSP00000375809.4:p.Arg686=
ENST00000646507.1:n.2155T>G
ENST00000391941.6:c.1986T>G	ENSP00000375805.2:p.Arg662=
ENST00000391942.6:n.1229T>G
ENST00000391944.7:c.1824T>G	ENSP00000375808.3:p.Arg608=
ENST00000391945.8:c.2058T>G	ENSP00000375809.3:p.Arg686=
ENST00000588652.5:n.2146T>G
NM_000400.3:c.2058T>G , LRG_461t1:c.2058T>G	NP_000391.1:p.Arg686=
XM_011526611.1:c.1980T>G	XP_011524913.1:p.Arg660=
XM_011526611.2:c.1980T>G	XP_011524913.1:p.Arg660=
XM_017026467.1:c.1935T>G	XP_016881956.1:p.Arg645=
XR_001753633.2:n.2105T>G
XR_001753634.2:n.2041T>G
NM_000400.4:c.2058T>G MANE Select	NP_000391.1:p.Arg686=