Canonical Allele Identifier: CA406373574

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1764768
• ClinVar RCV Id: RCV002373747
• MyVariant Identifiers: chr19:g.45867312T>G (hg19) ; chr19:g.45364054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364054T>G , CM000681.2:g.45364054T>G	GRCh38
NC_000019.9:g.45867312T>G , CM000681.1:g.45867312T>G	GRCh37
NC_000019.8:g.50559152T>G	NCBI36
NG_007067.2:g.11534A>C , LRG_461:g.11534A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.881A>C	ENSP00000375808.4:p.Glu294Ala
ENST00000682414.1:c.881A>C	ENSP00000507019.1:p.Glu294Ala
ENST00000682508.1:n.910A>C
ENST00000684218.1:c.*139A>C	ENSP00000507804.1:n.*139A>C
ENST00000684407.1:c.758A>C	ENSP00000507775.1:p.Glu253Ala
ENST00000684458.1:c.881A>C	ENSP00000508260.1:p.Glu294Ala
ENST00000391945.10:c.881A>C MANE Select	ENSP00000375809.4:p.Glu294Ala
ENST00000586131.6:c.809A>C	ENSP00000464887.1:p.Glu270Ala
ENST00000587376.6:c.4A>C
ENST00000646507.1:n.978A>C
ENST00000391941.6:c.809A>C	ENSP00000375805.2:p.Glu270Ala
ENST00000391944.7:c.647A>C	ENSP00000375808.3:p.Glu216Ala
ENST00000391945.8:c.881A>C	ENSP00000375809.3:p.Glu294Ala
ENST00000485403.6:c.809A>C	ENSP00000431229.2:p.Glu270Ala
ENST00000586131.5:c.809A>C	ENSP00000464887.1:p.Glu270Ala
ENST00000587376.5:c.4A>C
ENST00000591309.5:c.*139A>C	ENSP00000465207.1:n.*139A>C
NM_000400.3:c.881A>C , LRG_461t1:c.881A>C	NP_000391.1:p.Glu294Ala
NM_001130867.1:c.809A>C	NP_001124339.1:p.Glu270Ala
XM_011526611.1:c.803A>C	XP_011524913.1:p.Glu268Ala
XR_935763.1:n.928A>C
XM_011526611.2:c.803A>C	XP_011524913.1:p.Glu268Ala
XM_017026467.1:c.758A>C	XP_016881956.1:p.Glu253Ala
XR_001753633.2:n.928A>C
XR_001753634.2:n.928A>C
NM_000400.4:c.881A>C MANE Select	NP_000391.1:p.Glu294Ala
NM_001130867.2:c.809A>C	NP_001124339.1:p.Glu270Ala