Canonical Allele Identifier: CA406373867

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1013171
• ClinVar RCV Id: RCV001311538
• dbSNP Id: rs779850024
• gnomAD v3: 19-45364115-T-A
• gnomAD v4: 19-45364115-T-A
• MyVariant Identifiers: chr19:g.45867373T>A (hg19) ; chr19:g.45364115T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364115T>A , CM000681.2:g.45364115T>A	GRCh38
NC_000019.9:g.45867373T>A , CM000681.1:g.45867373T>A	GRCh37
NC_000019.8:g.50559213T>A	NCBI36
NG_007067.2:g.11473A>T , LRG_461:g.11473A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.820A>T	ENSP00000375808.4:p.Lys274Ter
ENST00000682414.1:c.820A>T	ENSP00000507019.1:p.Lys274Ter
ENST00000682508.1:n.849A>T
ENST00000684218.1:c.*78A>T	ENSP00000507804.1:n.*78A>T
ENST00000684407.1:c.697A>T	ENSP00000507775.1:p.Lys233Ter
ENST00000684458.1:c.820A>T	ENSP00000508260.1:p.Lys274Ter
ENST00000391945.10:c.820A>T MANE Select	ENSP00000375809.4:p.Lys274Ter
ENST00000586131.6:c.748A>T	ENSP00000464887.1:p.Lys250Ter
ENST00000646507.1:n.917A>T
ENST00000391941.6:c.748A>T	ENSP00000375805.2:p.Lys250Ter
ENST00000391944.7:c.586A>T	ENSP00000375808.3:p.Lys196Ter
ENST00000391945.8:c.820A>T	ENSP00000375809.3:p.Lys274Ter
ENST00000485403.6:c.748A>T	ENSP00000431229.2:p.Lys250Ter
ENST00000586131.5:c.748A>T	ENSP00000464887.1:p.Lys250Ter
ENST00000586737.5:n.457A>T
ENST00000591309.5:c.*78A>T	ENSP00000465207.1:n.*78A>T
NM_000400.3:c.820A>T , LRG_461t1:c.820A>T	NP_000391.1:p.Lys274Ter
NM_001130867.1:c.748A>T	NP_001124339.1:p.Lys250Ter
XM_011526611.1:c.742A>T	XP_011524913.1:p.Lys248Ter
XR_935763.1:n.867A>T
XM_011526611.2:c.742A>T	XP_011524913.1:p.Lys248Ter
XM_017026467.1:c.697A>T	XP_016881956.1:p.Lys233Ter
XR_001753633.2:n.867A>T
XR_001753634.2:n.867A>T
NM_000400.4:c.820A>T MANE Select	NP_000391.1:p.Lys274Ter
NM_001130867.2:c.748A>T	NP_001124339.1:p.Lys250Ter