Canonical Allele Identifier: CA406373845

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2586785
• ClinVar RCV Id: RCV003341848
• MyVariant Identifiers: chr19:g.45867369T>C (hg19) ; chr19:g.45364111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364111T>C , CM000681.2:g.45364111T>C	GRCh38
NC_000019.9:g.45867369T>C , CM000681.1:g.45867369T>C	GRCh37
NC_000019.8:g.50559209T>C	NCBI36
NG_007067.2:g.11477A>G , LRG_461:g.11477A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.824A>G	ENSP00000375808.4:p.Glu275Gly
ENST00000682414.1:c.824A>G	ENSP00000507019.1:p.Glu275Gly
ENST00000682508.1:n.853A>G
ENST00000684218.1:c.*82A>G	ENSP00000507804.1:n.*82A>G
ENST00000684407.1:c.701A>G	ENSP00000507775.1:p.Glu234Gly
ENST00000684458.1:c.824A>G	ENSP00000508260.1:p.Glu275Gly
ENST00000391945.10:c.824A>G MANE Select	ENSP00000375809.4:p.Glu275Gly
ENST00000586131.6:c.752A>G	ENSP00000464887.1:p.Glu251Gly
ENST00000646507.1:n.921A>G
ENST00000391941.6:c.752A>G	ENSP00000375805.2:p.Glu251Gly
ENST00000391944.7:c.590A>G	ENSP00000375808.3:p.Glu197Gly
ENST00000391945.8:c.824A>G	ENSP00000375809.3:p.Glu275Gly
ENST00000485403.6:c.752A>G	ENSP00000431229.2:p.Glu251Gly
ENST00000586131.5:c.752A>G	ENSP00000464887.1:p.Glu251Gly
ENST00000586737.5:n.461A>G
ENST00000591309.5:c.*82A>G	ENSP00000465207.1:n.*82A>G
NM_000400.3:c.824A>G , LRG_461t1:c.824A>G	NP_000391.1:p.Glu275Gly
NM_001130867.1:c.752A>G	NP_001124339.1:p.Glu251Gly
XM_011526611.1:c.746A>G	XP_011524913.1:p.Glu249Gly
XR_935763.1:n.871A>G
XM_011526611.2:c.746A>G	XP_011524913.1:p.Glu249Gly
XM_017026467.1:c.701A>G	XP_016881956.1:p.Glu234Gly
XR_001753633.2:n.871A>G
XR_001753634.2:n.871A>G
NM_000400.4:c.824A>G MANE Select	NP_000391.1:p.Glu275Gly
NM_001130867.2:c.752A>G	NP_001124339.1:p.Glu251Gly