Canonical Allele Identifier: CA158818

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 134117
• ClinVar RCV Id: RCV000120789 ; RCV000990231 ; RCV001514552 ; RCV001657759 ; RCV001657760
• dbSNP Id: rs1799793
• ExAC: 19:45867259 C / T
• gnomAD v2: 19-45867259-C-T
• gnomAD v3: 19-45364001-C-T
• gnomAD v4: 19-45364001-C-T
• MyVariant Identifiers: chr19:g.45867259C>T (hg19) ; chr19:g.45364001C>T (hg38)
• PubMed: PMID:11606376 ; PMID:17164380 ; PMID:17975167 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364001C>T , CM000681.2:g.45364001C>T	GRCh38
NC_000019.9:g.45867259C>T , CM000681.1:g.45867259C>T	GRCh37
NC_000019.8:g.50559099C>T	NCBI36
NG_007067.2:g.11587G>A , LRG_461:g.11587G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.934G>A	ENSP00000375808.4:p.Asp312Asn
ENST00000682414.1:c.934G>A	ENSP00000507019.1:p.Asp312Asn
ENST00000682508.1:n.963G>A
ENST00000684218.1:c.*192G>A	ENSP00000507804.1:n.*192G>A
ENST00000684407.1:c.811G>A	ENSP00000507775.1:p.Asp271Asn
ENST00000684458.1:c.934G>A	ENSP00000508260.1:p.Asp312Asn
ENST00000391945.10:c.934G>A MANE Select	ENSP00000375809.4:p.Asp312Asn
ENST00000586131.6:c.862G>A	ENSP00000464887.1:p.Asp288Asn
ENST00000587376.6:c.57G>A
ENST00000646507.1:n.1031G>A
ENST00000391941.6:c.862G>A	ENSP00000375805.2:p.Asp288Asn
ENST00000391944.7:c.700G>A	ENSP00000375808.3:p.Asp234Asn
ENST00000391945.8:c.934G>A	ENSP00000375809.3:p.Asp312Asn
ENST00000485403.6:c.862G>A	ENSP00000431229.2:p.Asp288Asn
ENST00000586131.5:c.862G>A	ENSP00000464887.1:p.Asp288Asn
ENST00000587376.5:c.57G>A
NM_000400.3:c.934G>A , LRG_461t1:c.934G>A	NP_000391.1:p.Asp312Asn
NM_001130867.1:c.862G>A	NP_001124339.1:p.Asp288Asn
XM_011526611.1:c.856G>A	XP_011524913.1:p.Asp286Asn
XR_935763.1:n.981G>A
XM_011526611.2:c.856G>A	XP_011524913.1:p.Asp286Asn
XM_017026467.1:c.811G>A	XP_016881956.1:p.Asp271Asn
XR_001753633.2:n.981G>A
XR_001753634.2:n.981G>A
NM_000400.4:c.934G>A MANE Select	NP_000391.1:p.Asp312Asn
NM_001130867.2:c.862G>A	NP_001124339.1:p.Asp288Asn