Canonical Allele Identifier: CA308966691
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2415239
ClinVar RCV Id: RCV003110658
dbSNP Id: rs1799793

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45364001C>A , CM000681.2:g.45364001C>A GRCh38
NC_000019.9:g.45867259C>A , CM000681.1:g.45867259C>A GRCh37
NC_000019.8:g.50559099C>A NCBI36
NG_007067.2:g.11587G>T , LRG_461:g.11587G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.934G>T ENSP00000375808.4:p.Asp312Tyr
ENST00000682414.1:c.934G>T ENSP00000507019.1:p.Asp312Tyr
ENST00000682508.1:n.963G>T
ENST00000684218.1:c.*192G>T ENSP00000507804.1:n.*192G>T
ENST00000684407.1:c.811G>T ENSP00000507775.1:p.Asp271Tyr
ENST00000684458.1:c.934G>T ENSP00000508260.1:p.Asp312Tyr
ENST00000391945.10:c.934G>T MANE Select ENSP00000375809.4:p.Asp312Tyr
ENST00000586131.6:c.862G>T ENSP00000464887.1:p.Asp288Tyr
ENST00000587376.6:c.57G>T
ENST00000646507.1:n.1031G>T
ENST00000391941.6:c.862G>T ENSP00000375805.2:p.Asp288Tyr
ENST00000391944.7:c.700G>T ENSP00000375808.3:p.Asp234Tyr
ENST00000391945.8:c.934G>T ENSP00000375809.3:p.Asp312Tyr
ENST00000485403.6:c.862G>T ENSP00000431229.2:p.Asp288Tyr
ENST00000586131.5:c.862G>T ENSP00000464887.1:p.Asp288Tyr
ENST00000587376.5:c.57G>T
NM_000400.3:c.934G>T , LRG_461t1:c.934G>T NP_000391.1:p.Asp312Tyr
NM_001130867.1:c.862G>T NP_001124339.1:p.Asp288Tyr
XM_011526611.1:c.856G>T XP_011524913.1:p.Asp286Tyr
XR_935763.1:n.981G>T
XM_011526611.2:c.856G>T XP_011524913.1:p.Asp286Tyr
XM_017026467.1:c.811G>T XP_016881956.1:p.Asp271Tyr
XR_001753633.2:n.981G>T
XR_001753634.2:n.981G>T
NM_000400.4:c.934G>T MANE Select NP_000391.1:p.Asp312Tyr
NM_001130867.2:c.862G>T NP_001124339.1:p.Asp288Tyr