Canonical Allele Identifier: CA406373842

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1762661
• ClinVar RCV Id: RCV002430183
• MyVariant Identifiers: chr19:g.45867368C>G (hg19) ; chr19:g.45364110C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364110C>G , CM000681.2:g.45364110C>G	GRCh38
NC_000019.9:g.45867368C>G , CM000681.1:g.45867368C>G	GRCh37
NC_000019.8:g.50559208C>G	NCBI36
NG_007067.2:g.11478G>C , LRG_461:g.11478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.825G>C	ENSP00000375808.4:p.Glu275Asp
ENST00000682414.1:c.825G>C	ENSP00000507019.1:p.Glu275Asp
ENST00000682508.1:n.854G>C
ENST00000684218.1:c.*83G>C	ENSP00000507804.1:n.*83G>C
ENST00000684407.1:c.702G>C	ENSP00000507775.1:p.Glu234Asp
ENST00000684458.1:c.825G>C	ENSP00000508260.1:p.Glu275Asp
ENST00000391945.10:c.825G>C MANE Select	ENSP00000375809.4:p.Glu275Asp
ENST00000586131.6:c.753G>C	ENSP00000464887.1:p.Glu251Asp
ENST00000646507.1:n.922G>C
ENST00000391941.6:c.753G>C	ENSP00000375805.2:p.Glu251Asp
ENST00000391944.7:c.591G>C	ENSP00000375808.3:p.Glu197Asp
ENST00000391945.8:c.825G>C	ENSP00000375809.3:p.Glu275Asp
ENST00000485403.6:c.753G>C	ENSP00000431229.2:p.Glu251Asp
ENST00000586131.5:c.753G>C	ENSP00000464887.1:p.Glu251Asp
ENST00000586737.5:n.462G>C
ENST00000591309.5:c.*83G>C	ENSP00000465207.1:n.*83G>C
NM_000400.3:c.825G>C , LRG_461t1:c.825G>C	NP_000391.1:p.Glu275Asp
NM_001130867.1:c.753G>C	NP_001124339.1:p.Glu251Asp
XM_011526611.1:c.747G>C	XP_011524913.1:p.Glu249Asp
XR_935763.1:n.872G>C
XM_011526611.2:c.747G>C	XP_011524913.1:p.Glu249Asp
XM_017026467.1:c.702G>C	XP_016881956.1:p.Glu234Asp
XR_001753633.2:n.872G>C
XR_001753634.2:n.872G>C
NM_000400.4:c.825G>C MANE Select	NP_000391.1:p.Glu275Asp
NM_001130867.2:c.753G>C	NP_001124339.1:p.Glu251Asp