Canonical Allele Identifier: CA2338389146

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971867287

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352926T>C , CM000681.2:g.45352926T>C	GRCh38
NC_000019.9:g.45856184T>C , CM000681.1:g.45856184T>C	GRCh37
NC_000019.8:g.50548024T>C	NCBI36
NG_007067.2:g.22662A>G , LRG_461:g.22662A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-110A>G	ENSP00000375808.4:n.1832-110A>G
ENST00000682414.1:c.1832-110A>G	ENSP00000507019.1:n.1832-110A>G
ENST00000682508.1:n.1861-110A>G
ENST00000684218.1:c.*1090-110A>G	ENSP00000507804.1:n.*1090-110A>G
ENST00000684264.1:n.1388-110A>G
ENST00000684407.1:c.1709-110A>G	ENSP00000507775.1:n.1709-110A>G
ENST00000684458.1:c.*318-110A>G	ENSP00000508260.1:n.*318-110A>G
ENST00000684468.1:n.1544-110A>G
ENST00000391945.10:c.1832-110A>G MANE Select	ENSP00000375809.4:n.1832-110A>G
ENST00000646507.1:n.1929-110A>G
ENST00000391941.6:c.1760-110A>G	ENSP00000375805.2:n.1760-110A>G
ENST00000391942.6:n.1003-110A>G
ENST00000391944.7:c.1598-110A>G	ENSP00000375808.3:n.1598-110A>G
ENST00000391945.8:c.1832-110A>G	ENSP00000375809.3:n.1832-110A>G
ENST00000588652.5:n.1920-110A>G
NM_000400.3:c.1832-110A>G , LRG_461t1:c.1832-110A>G	NP_000391.1:n.1832-110A>G
XM_011526611.1:c.1754-110A>G	XP_011524913.1:n.1754-110A>G
XM_011526611.2:c.1754-110A>G	XP_011524913.1:n.1754-110A>G
XM_017026467.1:c.1709-110A>G	XP_016881956.1:n.1709-110A>G
XR_001753633.2:n.1879-110A>G
XR_001753634.2:n.1815-110A>G
NM_000400.4:c.1832-110A>G MANE Select	NP_000391.1:n.1832-110A>G