Canonical Allele Identifier: CA406373884

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1762302
• ClinVar RCV Id: RCV002427798
• gnomAD v4: 19-45364118-T-G
• MyVariant Identifiers: chr19:g.45867376T>G (hg19) ; chr19:g.45364118T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364118T>G , CM000681.2:g.45364118T>G	GRCh38
NC_000019.9:g.45867376T>G , CM000681.1:g.45867376T>G	GRCh37
NC_000019.8:g.50559216T>G	NCBI36
NG_007067.2:g.11470A>C , LRG_461:g.11470A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.817A>C	ENSP00000375808.4:p.Ile273Leu
ENST00000682414.1:c.817A>C	ENSP00000507019.1:p.Ile273Leu
ENST00000682508.1:n.846A>C
ENST00000684218.1:c.*75A>C	ENSP00000507804.1:n.*75A>C
ENST00000684407.1:c.694A>C	ENSP00000507775.1:p.Ile232Leu
ENST00000684458.1:c.817A>C	ENSP00000508260.1:p.Ile273Leu
ENST00000391945.10:c.817A>C MANE Select	ENSP00000375809.4:p.Ile273Leu
ENST00000586131.6:c.745A>C	ENSP00000464887.1:p.Ile249Leu
ENST00000646507.1:n.914A>C
ENST00000391941.6:c.745A>C	ENSP00000375805.2:p.Ile249Leu
ENST00000391944.7:c.583A>C	ENSP00000375808.3:p.Ile195Leu
ENST00000391945.8:c.817A>C	ENSP00000375809.3:p.Ile273Leu
ENST00000485403.6:c.745A>C	ENSP00000431229.2:p.Ile249Leu
ENST00000586131.5:c.745A>C	ENSP00000464887.1:p.Ile249Leu
ENST00000586737.5:n.454A>C
ENST00000591309.5:c.*75A>C	ENSP00000465207.1:n.*75A>C
NM_000400.3:c.817A>C , LRG_461t1:c.817A>C	NP_000391.1:p.Ile273Leu
NM_001130867.1:c.745A>C	NP_001124339.1:p.Ile249Leu
XM_011526611.1:c.739A>C	XP_011524913.1:p.Ile247Leu
XR_935763.1:n.864A>C
XM_011526611.2:c.739A>C	XP_011524913.1:p.Ile247Leu
XM_017026467.1:c.694A>C	XP_016881956.1:p.Ile232Leu
XR_001753633.2:n.864A>C
XR_001753634.2:n.864A>C
NM_000400.4:c.817A>C MANE Select	NP_000391.1:p.Ile273Leu
NM_001130867.2:c.745A>C	NP_001124339.1:p.Ile249Leu