Canonical Allele Identifier: CA406373361

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1523542
• ClinVar RCV Id: RCV002038958
• dbSNP Id: rs1395652548
• gnomAD v2: 19-45867268-C-T
• gnomAD v4: 19-45364010-C-T
• MyVariant Identifiers: chr19:g.45867268C>T (hg19) ; chr19:g.45364010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364010C>T , CM000681.2:g.45364010C>T	GRCh38
NC_000019.9:g.45867268C>T , CM000681.1:g.45867268C>T	GRCh37
NC_000019.8:g.50559108C>T	NCBI36
NG_007067.2:g.11578G>A , LRG_461:g.11578G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.925G>A	ENSP00000375808.4:p.Val309Met
ENST00000682414.1:c.925G>A	ENSP00000507019.1:p.Val309Met
ENST00000682508.1:n.954G>A
ENST00000684218.1:c.*183G>A	ENSP00000507804.1:n.*183G>A
ENST00000684407.1:c.802G>A	ENSP00000507775.1:p.Val268Met
ENST00000684458.1:c.925G>A	ENSP00000508260.1:p.Val309Met
ENST00000391945.10:c.925G>A MANE Select	ENSP00000375809.4:p.Val309Met
ENST00000586131.6:c.853G>A	ENSP00000464887.1:p.Val285Met
ENST00000587376.6:c.48G>A
ENST00000646507.1:n.1022G>A
ENST00000391941.6:c.853G>A	ENSP00000375805.2:p.Val285Met
ENST00000391944.7:c.691G>A	ENSP00000375808.3:p.Val231Met
ENST00000391945.8:c.925G>A	ENSP00000375809.3:p.Val309Met
ENST00000485403.6:c.853G>A	ENSP00000431229.2:p.Val285Met
ENST00000586131.5:c.853G>A	ENSP00000464887.1:p.Val285Met
ENST00000587376.5:c.48G>A
NM_000400.3:c.925G>A , LRG_461t1:c.925G>A	NP_000391.1:p.Val309Met
NM_001130867.1:c.853G>A	NP_001124339.1:p.Val285Met
XM_011526611.1:c.847G>A	XP_011524913.1:p.Val283Met
XR_935763.1:n.972G>A
XM_011526611.2:c.847G>A	XP_011524913.1:p.Val283Met
XM_017026467.1:c.802G>A	XP_016881956.1:p.Val268Met
XR_001753633.2:n.972G>A
XR_001753634.2:n.972G>A
NM_000400.4:c.925G>A MANE Select	NP_000391.1:p.Val309Met
NM_001130867.2:c.853G>A	NP_001124339.1:p.Val285Met