Canonical Allele Identifier: CA9513559

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1411589
• ClinVar RCV Id: RCV001942992 ; RCV002370510
• dbSNP Id: rs749260944
• ExAC: 19:45867167 C / T
• gnomAD v2: 19-45867167-C-T
• gnomAD v3: 19-45363909-C-T
• gnomAD v4: 19-45363909-C-T
• MyVariant Identifiers: chr19:g.45867167C>T (hg19) ; chr19:g.45363909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363909C>T , CM000681.2:g.45363909C>T	GRCh38
NC_000019.9:g.45867167C>T , CM000681.1:g.45867167C>T	GRCh37
NC_000019.8:g.50559007C>T	NCBI36
NG_007067.2:g.11679G>A , LRG_461:g.11679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.952G>A	ENSP00000375808.4:p.Ala318Thr
ENST00000682414.1:c.952G>A	ENSP00000507019.1:p.Ala318Thr
ENST00000682508.1:n.981G>A
ENST00000684218.1:c.*210G>A	ENSP00000507804.1:n.*210G>A
ENST00000684407.1:c.829G>A	ENSP00000507775.1:p.Ala277Thr
ENST00000684458.1:c.952G>A	ENSP00000508260.1:p.Ala318Thr
ENST00000391945.10:c.952G>A MANE Select	ENSP00000375809.4:p.Ala318Thr
ENST00000587376.6:c.75G>A
ENST00000646507.1:n.1049G>A
ENST00000391941.6:c.880G>A	ENSP00000375805.2:p.Ala294Thr
ENST00000391944.7:c.718G>A	ENSP00000375808.3:p.Ala240Thr
ENST00000391945.8:c.952G>A	ENSP00000375809.3:p.Ala318Thr
ENST00000485403.6:c.880G>A	ENSP00000431229.2:p.Ala294Thr
ENST00000587376.5:c.75G>A
NM_000400.3:c.952G>A , LRG_461t1:c.952G>A	NP_000391.1:p.Ala318Thr
NM_001130867.1:c.880G>A	NP_001124339.1:p.Ala294Thr
XM_011526611.1:c.874G>A	XP_011524913.1:p.Ala292Thr
XR_935763.1:n.999G>A
XM_011526611.2:c.874G>A	XP_011524913.1:p.Ala292Thr
XM_017026467.1:c.829G>A	XP_016881956.1:p.Ala277Thr
XR_001753633.2:n.999G>A
XR_001753634.2:n.999G>A
NM_000400.4:c.952G>A MANE Select	NP_000391.1:p.Ala318Thr
NM_001130867.2:c.880G>A	NP_001124339.1:p.Ala294Thr