Canonical Allele Identifier: CA507953635

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364092-C-A
• MyVariant Identifiers: chr19:g.45867350C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364092C>A , CM000681.2:g.45364092C>A	GRCh38
NC_000019.9:g.45867350C>A , CM000681.1:g.45867350C>A	GRCh37
NC_000019.8:g.50559190C>A	NCBI36
NG_007067.2:g.11496G>T , LRG_461:g.11496G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.843G>T	ENSP00000375808.4:p.Leu281=
ENST00000682414.1:c.843G>T	ENSP00000507019.1:p.Leu281=
ENST00000682508.1:n.872G>T
ENST00000684218.1:c.*101G>T	ENSP00000507804.1:n.*101G>T
ENST00000684407.1:c.720G>T	ENSP00000507775.1:p.Leu240=
ENST00000684458.1:c.843G>T	ENSP00000508260.1:p.Leu281=
ENST00000391945.10:c.843G>T MANE Select	ENSP00000375809.4:p.Leu281=
ENST00000586131.6:c.771G>T	ENSP00000464887.1:p.Leu257=
ENST00000646507.1:n.940G>T
ENST00000391941.6:c.771G>T	ENSP00000375805.2:p.Leu257=
ENST00000391944.7:c.609G>T	ENSP00000375808.3:p.Leu203=
ENST00000391945.8:c.843G>T	ENSP00000375809.3:p.Leu281=
ENST00000485403.6:c.771G>T	ENSP00000431229.2:p.Leu257=
ENST00000586131.5:c.771G>T	ENSP00000464887.1:p.Leu257=
ENST00000586737.5:n.480G>T
ENST00000591309.5:c.*101G>T	ENSP00000465207.1:n.*101G>T
NM_000400.3:c.843G>T , LRG_461t1:c.843G>T	NP_000391.1:p.Leu281=
NM_001130867.1:c.771G>T	NP_001124339.1:p.Leu257=
XM_011526611.1:c.765G>T	XP_011524913.1:p.Leu255=
XR_935763.1:n.890G>T
XM_011526611.2:c.765G>T	XP_011524913.1:p.Leu255=
XM_017026467.1:c.720G>T	XP_016881956.1:p.Leu240=
XR_001753633.2:n.890G>T
XR_001753634.2:n.890G>T
NM_000400.4:c.843G>T MANE Select	NP_000391.1:p.Leu281=
NM_001130867.2:c.771G>T	NP_001124339.1:p.Leu257=