Canonical Allele Identifier: CA406373405

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364018-G-T
• MyVariant Identifiers: chr19:g.45867276G>T (hg19) ; chr19:g.45364018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364018G>T , CM000681.2:g.45364018G>T	GRCh38
NC_000019.9:g.45867276G>T , CM000681.1:g.45867276G>T	GRCh37
NC_000019.8:g.50559116G>T	NCBI36
NG_007067.2:g.11570C>A , LRG_461:g.11570C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.917C>A	ENSP00000375808.4:p.Ala306Asp
ENST00000682414.1:c.917C>A	ENSP00000507019.1:p.Ala306Asp
ENST00000682508.1:n.946C>A
ENST00000684218.1:c.*175C>A	ENSP00000507804.1:n.*175C>A
ENST00000684407.1:c.794C>A	ENSP00000507775.1:p.Ala265Asp
ENST00000684458.1:c.917C>A	ENSP00000508260.1:p.Ala306Asp
ENST00000391945.10:c.917C>A MANE Select	ENSP00000375809.4:p.Ala306Asp
ENST00000586131.6:c.845C>A	ENSP00000464887.1:p.Ala282Asp
ENST00000587376.6:c.40C>A
ENST00000646507.1:n.1014C>A
ENST00000391941.6:c.845C>A	ENSP00000375805.2:p.Ala282Asp
ENST00000391944.7:c.683C>A	ENSP00000375808.3:p.Ala228Asp
ENST00000391945.8:c.917C>A	ENSP00000375809.3:p.Ala306Asp
ENST00000485403.6:c.845C>A	ENSP00000431229.2:p.Ala282Asp
ENST00000586131.5:c.845C>A	ENSP00000464887.1:p.Ala282Asp
ENST00000587376.5:c.40C>A
NM_000400.3:c.917C>A , LRG_461t1:c.917C>A	NP_000391.1:p.Ala306Asp
NM_001130867.1:c.845C>A	NP_001124339.1:p.Ala282Asp
XM_011526611.1:c.839C>A	XP_011524913.1:p.Ala280Asp
XR_935763.1:n.964C>A
XM_011526611.2:c.839C>A	XP_011524913.1:p.Ala280Asp
XM_017026467.1:c.794C>A	XP_016881956.1:p.Ala265Asp
XR_001753633.2:n.964C>A
XR_001753634.2:n.964C>A
NM_000400.4:c.917C>A MANE Select	NP_000391.1:p.Ala306Asp
NM_001130867.2:c.845C>A	NP_001124339.1:p.Ala282Asp