Canonical Allele Identifier: CA507953589

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1999917
• ClinVar RCV Id: RCV002797258
• dbSNP Id: rs1277431300
• gnomAD v2: 19-45867329-C-T
• MyVariant Identifiers: chr19:g.45867329C>T (hg19) ; chr19:g.45364071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364071C>T , CM000681.2:g.45364071C>T	GRCh38
NC_000019.9:g.45867329C>T , CM000681.1:g.45867329C>T	GRCh37
NC_000019.8:g.50559169C>T	NCBI36
NG_007067.2:g.11517G>A , LRG_461:g.11517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.864G>A	ENSP00000375808.4:p.Leu288=
ENST00000682414.1:c.864G>A	ENSP00000507019.1:p.Leu288=
ENST00000682508.1:n.893G>A
ENST00000684218.1:c.*122G>A	ENSP00000507804.1:n.*122G>A
ENST00000684407.1:c.741G>A	ENSP00000507775.1:p.Leu247=
ENST00000684458.1:c.864G>A	ENSP00000508260.1:p.Leu288=
ENST00000391945.10:c.864G>A MANE Select	ENSP00000375809.4:p.Leu288=
ENST00000586131.6:c.792G>A	ENSP00000464887.1:p.Leu264=
ENST00000646507.1:n.961G>A
ENST00000391941.6:c.792G>A	ENSP00000375805.2:p.Leu264=
ENST00000391944.7:c.630G>A	ENSP00000375808.3:p.Leu210=
ENST00000391945.8:c.864G>A	ENSP00000375809.3:p.Leu288=
ENST00000485403.6:c.792G>A	ENSP00000431229.2:p.Leu264=
ENST00000586131.5:c.792G>A	ENSP00000464887.1:p.Leu264=
ENST00000591309.5:c.*122G>A	ENSP00000465207.1:n.*122G>A
NM_000400.3:c.864G>A , LRG_461t1:c.864G>A	NP_000391.1:p.Leu288=
NM_001130867.1:c.792G>A	NP_001124339.1:p.Leu264=
XM_011526611.1:c.786G>A	XP_011524913.1:p.Leu262=
XR_935763.1:n.911G>A
XM_011526611.2:c.786G>A	XP_011524913.1:p.Leu262=
XM_017026467.1:c.741G>A	XP_016881956.1:p.Leu247=
XR_001753633.2:n.911G>A
XR_001753634.2:n.911G>A
NM_000400.4:c.864G>A MANE Select	NP_000391.1:p.Leu288=
NM_001130867.2:c.792G>A	NP_001124339.1:p.Leu264=