Canonical Allele Identifier: CA9512965

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1783103
• ClinVar RCV Id: RCV002413230
• dbSNP Id: rs756931913
• ExAC: 19:45855866 C / T
• gnomAD v2: 19-45855866-C-T
• gnomAD v4: 19-45352608-C-T
• MyVariant Identifiers: chr19:g.45855866C>T (hg19) ; chr19:g.45352608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352608C>T , CM000681.2:g.45352608C>T	GRCh38
NC_000019.9:g.45855866C>T , CM000681.1:g.45855866C>T	GRCh37
NC_000019.8:g.50547706C>T	NCBI36
NG_007067.2:g.22980G>A , LRG_461:g.22980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1944G>A	ENSP00000375808.4:p.Glu648=
ENST00000682414.1:c.1944G>A	ENSP00000507019.1:p.Glu648=
ENST00000682508.1:n.1973G>A
ENST00000684218.1:c.*1202G>A	ENSP00000507804.1:n.*1202G>A
ENST00000684264.1:n.1500G>A
ENST00000684407.1:c.1821G>A	ENSP00000507775.1:p.Glu607=
ENST00000684458.1:c.*430G>A	ENSP00000508260.1:n.*430G>A
ENST00000684468.1:n.1656G>A
ENST00000391945.10:c.1944G>A MANE Select	ENSP00000375809.4:p.Glu648=
ENST00000646507.1:n.2041G>A
ENST00000391941.6:c.1872G>A	ENSP00000375805.2:p.Glu624=
ENST00000391942.6:n.1115G>A
ENST00000391944.7:c.1710G>A	ENSP00000375808.3:p.Glu570=
ENST00000391945.8:c.1944G>A	ENSP00000375809.3:p.Glu648=
ENST00000588652.5:n.2032G>A
NM_000400.3:c.1944G>A , LRG_461t1:c.1944G>A	NP_000391.1:p.Glu648=
XM_011526611.1:c.1866G>A	XP_011524913.1:p.Glu622=
XM_011526611.2:c.1866G>A	XP_011524913.1:p.Glu622=
XM_017026467.1:c.1821G>A	XP_016881956.1:p.Glu607=
XR_001753633.2:n.1991G>A
XR_001753634.2:n.1927G>A
NM_000400.4:c.1944G>A MANE Select	NP_000391.1:p.Glu648=