Canonical Allele Identifier: CA406373081

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45363891-G-T
• MyVariant Identifiers: chr19:g.45867149G>T (hg19) ; chr19:g.45363891G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363891G>T , CM000681.2:g.45363891G>T	GRCh38
NC_000019.9:g.45867149G>T , CM000681.1:g.45867149G>T	GRCh37
NC_000019.8:g.50558989G>T	NCBI36
NG_007067.2:g.11697C>A , LRG_461:g.11697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.970C>A	ENSP00000375808.4:p.Arg324Ser
ENST00000682414.1:c.970C>A	ENSP00000507019.1:p.Arg324Ser
ENST00000682508.1:n.999C>A
ENST00000684218.1:c.*228C>A	ENSP00000507804.1:n.*228C>A
ENST00000684407.1:c.847C>A	ENSP00000507775.1:p.Arg283Ser
ENST00000684458.1:c.970C>A	ENSP00000508260.1:p.Arg324Ser
ENST00000391945.10:c.970C>A MANE Select	ENSP00000375809.4:p.Arg324Ser
ENST00000587376.6:c.93C>A
ENST00000646507.1:n.1067C>A
ENST00000391941.6:c.898C>A	ENSP00000375805.2:p.Arg300Ser
ENST00000391944.7:c.736C>A	ENSP00000375808.3:p.Arg246Ser
ENST00000391945.8:c.970C>A	ENSP00000375809.3:p.Arg324Ser
ENST00000485403.6:c.898C>A	ENSP00000431229.2:p.Arg300Ser
ENST00000587376.5:c.93C>A
NM_000400.3:c.970C>A , LRG_461t1:c.970C>A	NP_000391.1:p.Arg324Ser
NM_001130867.1:c.898C>A	NP_001124339.1:p.Arg300Ser
XM_011526611.1:c.892C>A	XP_011524913.1:p.Arg298Ser
XR_935763.1:n.1017C>A
XM_011526611.2:c.892C>A	XP_011524913.1:p.Arg298Ser
XM_017026467.1:c.847C>A	XP_016881956.1:p.Arg283Ser
XR_001753633.2:n.1017C>A
XR_001753634.2:n.1017C>A
NM_000400.4:c.970C>A MANE Select	NP_000391.1:p.Arg324Ser
NM_001130867.2:c.898C>A	NP_001124339.1:p.Arg300Ser