Canonical Allele Identifier: CA507953388

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1783550
• ClinVar RCV Id: RCV002423422
• MyVariant Identifiers: chr19:g.45855842G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352584G>T , CM000681.2:g.45352584G>T	GRCh38
NC_000019.9:g.45855842G>T , CM000681.1:g.45855842G>T	GRCh37
NC_000019.8:g.50547682G>T	NCBI36
NG_007067.2:g.23004C>A , LRG_461:g.23004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1968C>A	ENSP00000375808.4:p.Ala656=
ENST00000682414.1:c.1968C>A	ENSP00000507019.1:p.Ala656=
ENST00000682508.1:n.1997C>A
ENST00000684218.1:c.*1226C>A	ENSP00000507804.1:n.*1226C>A
ENST00000684264.1:n.1524C>A
ENST00000684407.1:c.1845C>A	ENSP00000507775.1:p.Ala615=
ENST00000684458.1:c.*454C>A	ENSP00000508260.1:n.*454C>A
ENST00000684468.1:n.1680C>A
ENST00000391945.10:c.1968C>A MANE Select	ENSP00000375809.4:p.Ala656=
ENST00000646507.1:n.2065C>A
ENST00000391941.6:c.1896C>A	ENSP00000375805.2:p.Ala632=
ENST00000391942.6:n.1139C>A
ENST00000391944.7:c.1734C>A	ENSP00000375808.3:p.Ala578=
ENST00000391945.8:c.1968C>A	ENSP00000375809.3:p.Ala656=
ENST00000588652.5:n.2056C>A
NM_000400.3:c.1968C>A , LRG_461t1:c.1968C>A	NP_000391.1:p.Ala656=
XM_011526611.1:c.1890C>A	XP_011524913.1:p.Ala630=
XM_011526611.2:c.1890C>A	XP_011524913.1:p.Ala630=
XM_017026467.1:c.1845C>A	XP_016881956.1:p.Ala615=
XR_001753633.2:n.2015C>A
XR_001753634.2:n.1951C>A
NM_000400.4:c.1968C>A MANE Select	NP_000391.1:p.Ala656=