Canonical Allele Identifier: CA406373484

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45867292T>G (hg19) ; chr19:g.45364034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364034T>G , CM000681.2:g.45364034T>G	GRCh38
NC_000019.9:g.45867292T>G , CM000681.1:g.45867292T>G	GRCh37
NC_000019.8:g.50559132T>G	NCBI36
NG_007067.2:g.11554A>C , LRG_461:g.11554A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.901A>C	ENSP00000375808.4:p.Thr301Pro
ENST00000682414.1:c.901A>C	ENSP00000507019.1:p.Thr301Pro
ENST00000682508.1:n.930A>C
ENST00000684218.1:c.*159A>C	ENSP00000507804.1:n.*159A>C
ENST00000684407.1:c.778A>C	ENSP00000507775.1:p.Thr260Pro
ENST00000684458.1:c.901A>C	ENSP00000508260.1:p.Thr301Pro
ENST00000391945.10:c.901A>C MANE Select	ENSP00000375809.4:p.Thr301Pro
ENST00000586131.6:c.829A>C	ENSP00000464887.1:p.Thr277Pro
ENST00000587376.6:c.24A>C
ENST00000646507.1:n.998A>C
ENST00000391941.6:c.829A>C	ENSP00000375805.2:p.Thr277Pro
ENST00000391944.7:c.667A>C	ENSP00000375808.3:p.Thr223Pro
ENST00000391945.8:c.901A>C	ENSP00000375809.3:p.Thr301Pro
ENST00000485403.6:c.829A>C	ENSP00000431229.2:p.Thr277Pro
ENST00000586131.5:c.829A>C	ENSP00000464887.1:p.Thr277Pro
ENST00000587376.5:c.24A>C
NM_000400.3:c.901A>C , LRG_461t1:c.901A>C	NP_000391.1:p.Thr301Pro
NM_001130867.1:c.829A>C	NP_001124339.1:p.Thr277Pro
XM_011526611.1:c.823A>C	XP_011524913.1:p.Thr275Pro
XR_935763.1:n.948A>C
XM_011526611.2:c.823A>C	XP_011524913.1:p.Thr275Pro
XM_017026467.1:c.778A>C	XP_016881956.1:p.Thr260Pro
XR_001753633.2:n.948A>C
XR_001753634.2:n.948A>C
NM_000400.4:c.901A>C MANE Select	NP_000391.1:p.Thr301Pro
NM_001130867.2:c.829A>C	NP_001124339.1:p.Thr277Pro