Canonical Allele Identifier: CA507953629

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2171767
• ClinVar RCV Id: RCV003088945
• gnomAD v4: 19-45364091-G-T
• MyVariant Identifiers: chr19:g.45867349G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364091G>T , CM000681.2:g.45364091G>T	GRCh38
NC_000019.9:g.45867349G>T , CM000681.1:g.45867349G>T	GRCh37
NC_000019.8:g.50559189G>T	NCBI36
NG_007067.2:g.11497C>A , LRG_461:g.11497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.844C>A	ENSP00000375808.4:p.Arg282=
ENST00000682414.1:c.844C>A	ENSP00000507019.1:p.Arg282=
ENST00000682508.1:n.873C>A
ENST00000684218.1:c.*102C>A	ENSP00000507804.1:n.*102C>A
ENST00000684407.1:c.721C>A	ENSP00000507775.1:p.Arg241=
ENST00000684458.1:c.844C>A	ENSP00000508260.1:p.Arg282=
ENST00000391945.10:c.844C>A MANE Select	ENSP00000375809.4:p.Arg282=
ENST00000586131.6:c.772C>A	ENSP00000464887.1:p.Arg258=
ENST00000646507.1:n.941C>A
ENST00000391941.6:c.772C>A	ENSP00000375805.2:p.Arg258=
ENST00000391944.7:c.610C>A	ENSP00000375808.3:p.Arg204=
ENST00000391945.8:c.844C>A	ENSP00000375809.3:p.Arg282=
ENST00000485403.6:c.772C>A	ENSP00000431229.2:p.Arg258=
ENST00000586131.5:c.772C>A	ENSP00000464887.1:p.Arg258=
ENST00000586737.5:n.481C>A
ENST00000591309.5:c.*102C>A	ENSP00000465207.1:n.*102C>A
NM_000400.3:c.844C>A , LRG_461t1:c.844C>A	NP_000391.1:p.Arg282=
NM_001130867.1:c.772C>A	NP_001124339.1:p.Arg258=
XM_011526611.1:c.766C>A	XP_011524913.1:p.Arg256=
XR_935763.1:n.891C>A
XM_011526611.2:c.766C>A	XP_011524913.1:p.Arg256=
XM_017026467.1:c.721C>A	XP_016881956.1:p.Arg241=
XR_001753633.2:n.891C>A
XR_001753634.2:n.891C>A
NM_000400.4:c.844C>A MANE Select	NP_000391.1:p.Arg282=
NM_001130867.2:c.772C>A	NP_001124339.1:p.Arg258=