Canonical Allele Identifier: CA9513595

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1319427
• ClinVar RCV Id: RCV001868785
• dbSNP Id: rs755174338
• ExAC: 19:45867354 C / T
• gnomAD v2: 19-45867354-C-T
• gnomAD v3: 19-45364096-C-T
• gnomAD v4: 19-45364096-C-T
• MyVariant Identifiers: chr19:g.45867354C>T (hg19) ; chr19:g.45364096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364096C>T , CM000681.2:g.45364096C>T	GRCh38
NC_000019.9:g.45867354C>T , CM000681.1:g.45867354C>T	GRCh37
NC_000019.8:g.50559194C>T	NCBI36
NG_007067.2:g.11492G>A , LRG_461:g.11492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.839G>A	ENSP00000375808.4:p.Arg280His
ENST00000682414.1:c.839G>A	ENSP00000507019.1:p.Arg280His
ENST00000682508.1:n.868G>A
ENST00000684218.1:c.*97G>A	ENSP00000507804.1:n.*97G>A
ENST00000684407.1:c.716G>A	ENSP00000507775.1:p.Arg239His
ENST00000684458.1:c.839G>A	ENSP00000508260.1:p.Arg280His
ENST00000391945.10:c.839G>A MANE Select	ENSP00000375809.4:p.Arg280His
ENST00000586131.6:c.767G>A	ENSP00000464887.1:p.Arg256His
ENST00000646507.1:n.936G>A
ENST00000391941.6:c.767G>A	ENSP00000375805.2:p.Arg256His
ENST00000391944.7:c.605G>A	ENSP00000375808.3:p.Arg202His
ENST00000391945.8:c.839G>A	ENSP00000375809.3:p.Arg280His
ENST00000485403.6:c.767G>A	ENSP00000431229.2:p.Arg256His
ENST00000586131.5:c.767G>A	ENSP00000464887.1:p.Arg256His
ENST00000586737.5:n.476G>A
ENST00000591309.5:c.*97G>A	ENSP00000465207.1:n.*97G>A
NM_000400.3:c.839G>A , LRG_461t1:c.839G>A	NP_000391.1:p.Arg280His
NM_001130867.1:c.767G>A	NP_001124339.1:p.Arg256His
XM_011526611.1:c.761G>A	XP_011524913.1:p.Arg254His
XR_935763.1:n.886G>A
XM_011526611.2:c.761G>A	XP_011524913.1:p.Arg254His
XM_017026467.1:c.716G>A	XP_016881956.1:p.Arg239His
XR_001753633.2:n.886G>A
XR_001753634.2:n.886G>A
NM_000400.4:c.839G>A MANE Select	NP_000391.1:p.Arg280His
NM_001130867.2:c.767G>A	NP_001124339.1:p.Arg256His