Canonical Allele Identifier: CA9513591

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1763562
• ClinVar RCV Id: RCV002447657
• dbSNP Id: rs571265507
• ExAC: 19:45867345 T / A
• gnomAD v2: 19-45867345-T-A
• gnomAD v3: 19-45364087-T-A
• gnomAD v4: 19-45364087-T-A
• MyVariant Identifiers: chr19:g.45867345T>A (hg19) ; chr19:g.45364087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364087T>A , CM000681.2:g.45364087T>A	GRCh38
NC_000019.9:g.45867345T>A , CM000681.1:g.45867345T>A	GRCh37
NC_000019.8:g.50559185T>A	NCBI36
NG_007067.2:g.11501A>T , LRG_461:g.11501A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.848A>T	ENSP00000375808.4:p.Asp283Val
ENST00000682414.1:c.848A>T	ENSP00000507019.1:p.Asp283Val
ENST00000682508.1:n.877A>T
ENST00000684218.1:c.*106A>T	ENSP00000507804.1:n.*106A>T
ENST00000684407.1:c.725A>T	ENSP00000507775.1:p.Asp242Val
ENST00000684458.1:c.848A>T	ENSP00000508260.1:p.Asp283Val
ENST00000391945.10:c.848A>T MANE Select	ENSP00000375809.4:p.Asp283Val
ENST00000586131.6:c.776A>T	ENSP00000464887.1:p.Asp259Val
ENST00000646507.1:n.945A>T
ENST00000391941.6:c.776A>T	ENSP00000375805.2:p.Asp259Val
ENST00000391944.7:c.614A>T	ENSP00000375808.3:p.Asp205Val
ENST00000391945.8:c.848A>T	ENSP00000375809.3:p.Asp283Val
ENST00000485403.6:c.776A>T	ENSP00000431229.2:p.Asp259Val
ENST00000586131.5:c.776A>T	ENSP00000464887.1:p.Asp259Val
ENST00000591309.5:c.*106A>T	ENSP00000465207.1:n.*106A>T
NM_000400.3:c.848A>T , LRG_461t1:c.848A>T	NP_000391.1:p.Asp283Val
NM_001130867.1:c.776A>T	NP_001124339.1:p.Asp259Val
XM_011526611.1:c.770A>T	XP_011524913.1:p.Asp257Val
XR_935763.1:n.895A>T
XM_011526611.2:c.770A>T	XP_011524913.1:p.Asp257Val
XM_017026467.1:c.725A>T	XP_016881956.1:p.Asp242Val
XR_001753633.2:n.895A>T
XR_001753634.2:n.895A>T
NM_000400.4:c.848A>T MANE Select	NP_000391.1:p.Asp283Val
NM_001130867.2:c.776A>T	NP_001124339.1:p.Asp259Val