Canonical Allele Identifier: CA406363090

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1783895
• ClinVar RCV Id: RCV002423767
• MyVariant Identifiers: chr19:g.45855823A>C (hg19) ; chr19:g.45352565A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352565A>C , CM000681.2:g.45352565A>C	GRCh38
NC_000019.9:g.45855823A>C , CM000681.1:g.45855823A>C	GRCh37
NC_000019.8:g.50547663A>C	NCBI36
NG_007067.2:g.23023T>G , LRG_461:g.23023T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1987T>G	ENSP00000375808.4:p.Cys663Gly
ENST00000682414.1:c.1987T>G	ENSP00000507019.1:p.Cys663Gly
ENST00000682508.1:n.2016T>G
ENST00000684218.1:c.*1245T>G	ENSP00000507804.1:n.*1245T>G
ENST00000684264.1:n.1543T>G
ENST00000684407.1:c.1864T>G	ENSP00000507775.1:p.Cys622Gly
ENST00000684458.1:c.*473T>G	ENSP00000508260.1:n.*473T>G
ENST00000684468.1:n.1699T>G
ENST00000391945.10:c.1987T>G MANE Select	ENSP00000375809.4:p.Cys663Gly
ENST00000646507.1:n.2084T>G
ENST00000391941.6:c.1915T>G	ENSP00000375805.2:p.Cys639Gly
ENST00000391942.6:n.1158T>G
ENST00000391944.7:c.1753T>G	ENSP00000375808.3:p.Cys585Gly
ENST00000391945.8:c.1987T>G	ENSP00000375809.3:p.Cys663Gly
ENST00000588652.5:n.2075T>G
NM_000400.3:c.1987T>G , LRG_461t1:c.1987T>G	NP_000391.1:p.Cys663Gly
XM_011526611.1:c.1909T>G	XP_011524913.1:p.Cys637Gly
XM_011526611.2:c.1909T>G	XP_011524913.1:p.Cys637Gly
XM_017026467.1:c.1864T>G	XP_016881956.1:p.Cys622Gly
XR_001753633.2:n.2034T>G
XR_001753634.2:n.1970T>G
NM_000400.4:c.1987T>G MANE Select	NP_000391.1:p.Cys663Gly