Canonical Allele Identifier: CA507821954

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45363901-A-T
• MyVariant Identifiers: chr19:g.45867159A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363901A>T , CM000681.2:g.45363901A>T	GRCh38
NC_000019.9:g.45867159A>T , CM000681.1:g.45867159A>T	GRCh37
NC_000019.8:g.50558999A>T	NCBI36
NG_007067.2:g.11687T>A , LRG_461:g.11687T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.960T>A	ENSP00000375808.4:p.Pro320=
ENST00000682414.1:c.960T>A	ENSP00000507019.1:p.Pro320=
ENST00000682508.1:n.989T>A
ENST00000684218.1:c.*218T>A	ENSP00000507804.1:n.*218T>A
ENST00000684407.1:c.837T>A	ENSP00000507775.1:p.Pro279=
ENST00000684458.1:c.960T>A	ENSP00000508260.1:p.Pro320=
ENST00000391945.10:c.960T>A MANE Select	ENSP00000375809.4:p.Pro320=
ENST00000587376.6:c.83T>A
ENST00000646507.1:n.1057T>A
ENST00000391941.6:c.888T>A	ENSP00000375805.2:p.Pro296=
ENST00000391944.7:c.726T>A	ENSP00000375808.3:p.Pro242=
ENST00000391945.8:c.960T>A	ENSP00000375809.3:p.Pro320=
ENST00000485403.6:c.888T>A	ENSP00000431229.2:p.Pro296=
ENST00000587376.5:c.83T>A
NM_000400.3:c.960T>A , LRG_461t1:c.960T>A	NP_000391.1:p.Pro320=
NM_001130867.1:c.888T>A	NP_001124339.1:p.Pro296=
XM_011526611.1:c.882T>A	XP_011524913.1:p.Pro294=
XR_935763.1:n.1007T>A
XM_011526611.2:c.882T>A	XP_011524913.1:p.Pro294=
XM_017026467.1:c.837T>A	XP_016881956.1:p.Pro279=
XR_001753633.2:n.1007T>A
XR_001753634.2:n.1007T>A
NM_000400.4:c.960T>A MANE Select	NP_000391.1:p.Pro320=
NM_001130867.2:c.888T>A	NP_001124339.1:p.Pro296=