Canonical Allele Identifier: CA9512816

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351717T>C , CM000681.2:g.45351717T>C	GRCh38
NC_000019.9:g.45854975T>C , CM000681.1:g.45854975T>C	GRCh37
NC_000019.8:g.50546815T>C	NCBI36
NG_007067.2:g.23871A>G , LRG_461:g.23871A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.2195A>G MANE Select	NP_000391.1:p.Asp732Gly
ENST00000391945.10:c.2195A>G MANE Select	ENSP00000375809.4:p.Asp732Gly
NM_000400.3:c.2195A>G , LRG_461t1:c.2195A>G	NP_000391.1:p.Asp732Gly
ENST00000391942.6:n.1366A>G
ENST00000391944.7:c.1961A>G	ENSP00000375808.3:p.Asp654Gly
ENST00000391944.8:c.*192A>G	ENSP00000375808.4:n.*192A>G
ENST00000391945.8:c.2195A>G	ENSP00000375809.3:p.Asp732Gly
ENST00000588652.5:n.2283A>G
ENST00000646507.1:n.2292A>G
ENST00000682414.1:c.2195A>G	ENSP00000507019.1:p.Asp732Gly
ENST00000682508.1:n.2224A>G
ENST00000684218.1:c.*1453A>G	ENSP00000507804.1:n.*1453A>G
ENST00000684264.1:n.1751A>G
ENST00000684407.1:c.2072A>G	ENSP00000507775.1:p.Asp691Gly
ENST00000684458.1:c.*681A>G	ENSP00000508260.1:n.*681A>G
ENST00000684468.1:n.1907A>G
XM_011526611.1:c.2117A>G	XP_011524913.1:p.Asp706Gly
XM_011526611.2:c.2117A>G	XP_011524913.1:p.Asp706Gly
XM_017026467.1:c.2072A>G	XP_016881956.1:p.Asp691Gly
XR_001753633.2:n.2242A>G
XR_001753634.2:n.2178A>G