Canonical Allele Identifier: CA9512862

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1035665
• ClinVar RCV Id: RCV001338562
• dbSNP Id: rs138569838
• ExAC: 19:45855492 C / T
• gnomAD v2: 19-45855492-C-T
• gnomAD v3: 19-45352234-C-T
• gnomAD v4: 19-45352234-C-T
• MyVariant Identifiers: chr19:g.45855492C>T (hg19) ; chr19:g.45352234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352234C>T , CM000681.2:g.45352234C>T	GRCh38
NC_000019.9:g.45855492C>T , CM000681.1:g.45855492C>T	GRCh37
NC_000019.8:g.50547332C>T	NCBI36
NG_007067.2:g.23354G>A , LRG_461:g.23354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2165G>A	ENSP00000375808.4:p.Arg722Gln
ENST00000682414.1:c.2165G>A	ENSP00000507019.1:p.Arg722Gln
ENST00000682508.1:n.2194G>A
ENST00000684218.1:c.*1423G>A	ENSP00000507804.1:n.*1423G>A
ENST00000684264.1:n.1721G>A
ENST00000684407.1:c.2042G>A	ENSP00000507775.1:p.Arg681Gln
ENST00000684458.1:c.*651G>A	ENSP00000508260.1:n.*651G>A
ENST00000684468.1:n.1877G>A
ENST00000391945.10:c.2165G>A MANE Select	ENSP00000375809.4:p.Arg722Gln
ENST00000646507.1:n.2262G>A
ENST00000391941.6:c.2093G>A	ENSP00000375805.2:p.Arg698Gln
ENST00000391942.6:n.1336G>A
ENST00000391944.7:c.1931G>A	ENSP00000375808.3:p.Arg644Gln
ENST00000391945.8:c.2165G>A	ENSP00000375809.3:p.Arg722Gln
ENST00000588652.5:n.2253G>A
NM_000400.3:c.2165G>A , LRG_461t1:c.2165G>A	NP_000391.1:p.Arg722Gln
XM_011526611.1:c.2087G>A	XP_011524913.1:p.Arg696Gln
XM_011526611.2:c.2087G>A	XP_011524913.1:p.Arg696Gln
XM_017026467.1:c.2042G>A	XP_016881956.1:p.Arg681Gln
XR_001753633.2:n.2212G>A
XR_001753634.2:n.2148G>A
NM_000400.4:c.2165G>A MANE Select	NP_000391.1:p.Arg722Gln