Canonical Allele Identifier: CA406373541

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364048-C-A
• MyVariant Identifiers: chr19:g.45867306C>A (hg19) ; chr19:g.45364048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364048C>A , CM000681.2:g.45364048C>A	GRCh38
NC_000019.9:g.45867306C>A , CM000681.1:g.45867306C>A	GRCh37
NC_000019.8:g.50559146C>A	NCBI36
NG_007067.2:g.11540G>T , LRG_461:g.11540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.887G>T	ENSP00000375808.4:p.Ser296Ile
ENST00000682414.1:c.887G>T	ENSP00000507019.1:p.Ser296Ile
ENST00000682508.1:n.916G>T
ENST00000684218.1:c.*145G>T	ENSP00000507804.1:n.*145G>T
ENST00000684407.1:c.764G>T	ENSP00000507775.1:p.Ser255Ile
ENST00000684458.1:c.887G>T	ENSP00000508260.1:p.Ser296Ile
ENST00000391945.10:c.887G>T MANE Select	ENSP00000375809.4:p.Ser296Ile
ENST00000586131.6:c.815G>T	ENSP00000464887.1:p.Ser272Ile
ENST00000587376.6:c.10G>T
ENST00000646507.1:n.984G>T
ENST00000391941.6:c.815G>T	ENSP00000375805.2:p.Ser272Ile
ENST00000391944.7:c.653G>T	ENSP00000375808.3:p.Ser218Ile
ENST00000391945.8:c.887G>T	ENSP00000375809.3:p.Ser296Ile
ENST00000485403.6:c.815G>T	ENSP00000431229.2:p.Ser272Ile
ENST00000586131.5:c.815G>T	ENSP00000464887.1:p.Ser272Ile
ENST00000587376.5:c.10G>T
ENST00000591309.5:c.*145G>T	ENSP00000465207.1:n.*145G>T
NM_000400.3:c.887G>T , LRG_461t1:c.887G>T	NP_000391.1:p.Ser296Ile
NM_001130867.1:c.815G>T	NP_001124339.1:p.Ser272Ile
XM_011526611.1:c.809G>T	XP_011524913.1:p.Ser270Ile
XR_935763.1:n.934G>T
XM_011526611.2:c.809G>T	XP_011524913.1:p.Ser270Ile
XM_017026467.1:c.764G>T	XP_016881956.1:p.Ser255Ile
XR_001753633.2:n.934G>T
XR_001753634.2:n.934G>T
NM_000400.4:c.887G>T MANE Select	NP_000391.1:p.Ser296Ile
NM_001130867.2:c.815G>T	NP_001124339.1:p.Ser272Ile