Canonical Allele Identifier: CA406362889

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1692432
• ClinVar RCV Id: RCV002258540 ; RCV002416540 ; RCV003094221
• dbSNP Id: rs2123223978
• gnomAD v4: 19-45352535-C-T
• MyVariant Identifiers: chr19:g.45855793C>T (hg19) ; chr19:g.45352535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352535C>T , CM000681.2:g.45352535C>T	GRCh38
NC_000019.9:g.45855793C>T , CM000681.1:g.45855793C>T	GRCh37
NC_000019.8:g.50547633C>T	NCBI36
NG_007067.2:g.23053G>A , LRG_461:g.23053G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2017G>A	ENSP00000375808.4:p.Asp673Asn
ENST00000682414.1:c.2017G>A	ENSP00000507019.1:p.Asp673Asn
ENST00000682508.1:n.2046G>A
ENST00000684218.1:c.*1275G>A	ENSP00000507804.1:n.*1275G>A
ENST00000684264.1:n.1573G>A
ENST00000684407.1:c.1894G>A	ENSP00000507775.1:p.Asp632Asn
ENST00000684458.1:c.*503G>A	ENSP00000508260.1:n.*503G>A
ENST00000684468.1:n.1729G>A
ENST00000391945.10:c.2017G>A MANE Select	ENSP00000375809.4:p.Asp673Asn
ENST00000646507.1:n.2114G>A
ENST00000391941.6:c.1945G>A	ENSP00000375805.2:p.Asp649Asn
ENST00000391942.6:n.1188G>A
ENST00000391944.7:c.1783G>A	ENSP00000375808.3:p.Asp595Asn
ENST00000391945.8:c.2017G>A	ENSP00000375809.3:p.Asp673Asn
ENST00000588652.5:n.2105G>A
NM_000400.3:c.2017G>A , LRG_461t1:c.2017G>A	NP_000391.1:p.Asp673Asn
XM_011526611.1:c.1939G>A	XP_011524913.1:p.Asp647Asn
XM_011526611.2:c.1939G>A	XP_011524913.1:p.Asp647Asn
XM_017026467.1:c.1894G>A	XP_016881956.1:p.Asp632Asn
XR_001753633.2:n.2064G>A
XR_001753634.2:n.2000G>A
NM_000400.4:c.2017G>A MANE Select	NP_000391.1:p.Asp673Asn