Canonical Allele Identifier: CA308966407

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1767974
• ClinVar RCV Id: RCV002376714 ; RCV003094862
• dbSNP Id: rs892942500
• gnomAD v3: 19-45363890-C-T
• gnomAD v4: 19-45363890-C-T
• MyVariant Identifiers: chr19:g.45867148C>T (hg19) ; chr19:g.45363890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363890C>T , CM000681.2:g.45363890C>T	GRCh38
NC_000019.9:g.45867148C>T , CM000681.1:g.45867148C>T	GRCh37
NC_000019.8:g.50558988C>T	NCBI36
NG_007067.2:g.11698G>A , LRG_461:g.11698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.971G>A	ENSP00000375808.4:p.Arg324His
ENST00000682414.1:c.971G>A	ENSP00000507019.1:p.Arg324His
ENST00000682508.1:n.1000G>A
ENST00000684218.1:c.*229G>A	ENSP00000507804.1:n.*229G>A
ENST00000684407.1:c.848G>A	ENSP00000507775.1:p.Arg283His
ENST00000684458.1:c.971G>A	ENSP00000508260.1:p.Arg324His
ENST00000391945.10:c.971G>A MANE Select	ENSP00000375809.4:p.Arg324His
ENST00000587376.6:c.94G>A
ENST00000646507.1:n.1068G>A
ENST00000391941.6:c.899G>A	ENSP00000375805.2:p.Arg300His
ENST00000391944.7:c.737G>A	ENSP00000375808.3:p.Arg246His
ENST00000391945.8:c.971G>A	ENSP00000375809.3:p.Arg324His
ENST00000485403.6:c.899G>A	ENSP00000431229.2:p.Arg300His
ENST00000587376.5:c.94G>A
NM_000400.3:c.971G>A , LRG_461t1:c.971G>A	NP_000391.1:p.Arg324His
NM_001130867.1:c.899G>A	NP_001124339.1:p.Arg300His
XM_011526611.1:c.893G>A	XP_011524913.1:p.Arg298His
XR_935763.1:n.1018G>A
XM_011526611.2:c.893G>A	XP_011524913.1:p.Arg298His
XM_017026467.1:c.848G>A	XP_016881956.1:p.Arg283His
XR_001753633.2:n.1018G>A
XR_001753634.2:n.1018G>A
NM_000400.4:c.971G>A MANE Select	NP_000391.1:p.Arg324His
NM_001130867.2:c.899G>A	NP_001124339.1:p.Arg300His