Canonical Allele Identifier: CA406363375

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855864T>A (hg19) ; chr19:g.45352606T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352606T>A , CM000681.2:g.45352606T>A	GRCh38
NC_000019.9:g.45855864T>A , CM000681.1:g.45855864T>A	GRCh37
NC_000019.8:g.50547704T>A	NCBI36
NG_007067.2:g.22982A>T , LRG_461:g.22982A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1946A>T	ENSP00000375808.4:p.Asn649Ile
ENST00000682414.1:c.1946A>T	ENSP00000507019.1:p.Asn649Ile
ENST00000682508.1:n.1975A>T
ENST00000684218.1:c.*1204A>T	ENSP00000507804.1:n.*1204A>T
ENST00000684264.1:n.1502A>T
ENST00000684407.1:c.1823A>T	ENSP00000507775.1:p.Asn608Ile
ENST00000684458.1:c.*432A>T	ENSP00000508260.1:n.*432A>T
ENST00000684468.1:n.1658A>T
ENST00000391945.10:c.1946A>T MANE Select	ENSP00000375809.4:p.Asn649Ile
ENST00000646507.1:n.2043A>T
ENST00000391941.6:c.1874A>T	ENSP00000375805.2:p.Asn625Ile
ENST00000391942.6:n.1117A>T
ENST00000391944.7:c.1712A>T	ENSP00000375808.3:p.Asn571Ile
ENST00000391945.8:c.1946A>T	ENSP00000375809.3:p.Asn649Ile
ENST00000588652.5:n.2034A>T
NM_000400.3:c.1946A>T , LRG_461t1:c.1946A>T	NP_000391.1:p.Asn649Ile
XM_011526611.1:c.1868A>T	XP_011524913.1:p.Asn623Ile
XM_011526611.2:c.1868A>T	XP_011524913.1:p.Asn623Ile
XM_017026467.1:c.1823A>T	XP_016881956.1:p.Asn608Ile
XR_001753633.2:n.1993A>T
XR_001753634.2:n.1929A>T
NM_000400.4:c.1946A>T MANE Select	NP_000391.1:p.Asn649Ile