Canonical Allele Identifier: CA507953391

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2711095
• ClinVar RCV Id: RCV003552732
• MyVariant Identifiers: chr19:g.45855851G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352593G>T , CM000681.2:g.45352593G>T	GRCh38
NC_000019.9:g.45855851G>T , CM000681.1:g.45855851G>T	GRCh37
NC_000019.8:g.50547691G>T	NCBI36
NG_007067.2:g.22995C>A , LRG_461:g.22995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1959C>A	ENSP00000375808.4:p.Thr653=
ENST00000682414.1:c.1959C>A	ENSP00000507019.1:p.Thr653=
ENST00000682508.1:n.1988C>A
ENST00000684218.1:c.*1217C>A	ENSP00000507804.1:n.*1217C>A
ENST00000684264.1:n.1515C>A
ENST00000684407.1:c.1836C>A	ENSP00000507775.1:p.Thr612=
ENST00000684458.1:c.*445C>A	ENSP00000508260.1:n.*445C>A
ENST00000684468.1:n.1671C>A
ENST00000391945.10:c.1959C>A MANE Select	ENSP00000375809.4:p.Thr653=
ENST00000646507.1:n.2056C>A
ENST00000391941.6:c.1887C>A	ENSP00000375805.2:p.Thr629=
ENST00000391942.6:n.1130C>A
ENST00000391944.7:c.1725C>A	ENSP00000375808.3:p.Thr575=
ENST00000391945.8:c.1959C>A	ENSP00000375809.3:p.Thr653=
ENST00000588652.5:n.2047C>A
NM_000400.3:c.1959C>A , LRG_461t1:c.1959C>A	NP_000391.1:p.Thr653=
XM_011526611.1:c.1881C>A	XP_011524913.1:p.Thr627=
XM_011526611.2:c.1881C>A	XP_011524913.1:p.Thr627=
XM_017026467.1:c.1836C>A	XP_016881956.1:p.Thr612=
XR_001753633.2:n.2006C>A
XR_001753634.2:n.1942C>A
NM_000400.4:c.1959C>A MANE Select	NP_000391.1:p.Thr653=