Canonical Allele Identifier: CA406363209

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352580G>C , CM000681.2:g.45352580G>C	GRCh38
NC_000019.9:g.45855838G>C , CM000681.1:g.45855838G>C	GRCh37
NC_000019.8:g.50547678G>C	NCBI36
NG_007067.2:g.23008C>G , LRG_461:g.23008C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1972C>G	ENSP00000375808.4:p.Arg658Gly
ENST00000682414.1:c.1972C>G	ENSP00000507019.1:p.Arg658Gly
ENST00000682508.1:n.2001C>G
ENST00000684218.1:c.*1230C>G	ENSP00000507804.1:n.*1230C>G
ENST00000684264.1:n.1528C>G
ENST00000684407.1:c.1849C>G	ENSP00000507775.1:p.Arg617Gly
ENST00000684458.1:c.*458C>G	ENSP00000508260.1:n.*458C>G
ENST00000684468.1:n.1684C>G
ENST00000391945.10:c.1972C>G MANE Select	ENSP00000375809.4:p.Arg658Gly
ENST00000646507.1:n.2069C>G
ENST00000391941.6:c.1900C>G	ENSP00000375805.2:p.Arg634Gly
ENST00000391942.6:n.1143C>G
ENST00000391944.7:c.1738C>G	ENSP00000375808.3:p.Arg580Gly
ENST00000391945.8:c.1972C>G	ENSP00000375809.3:p.Arg658Gly
ENST00000588652.5:n.2060C>G
NM_000400.3:c.1972C>G , LRG_461t1:c.1972C>G	NP_000391.1:p.Arg658Gly
XM_011526611.1:c.1894C>G	XP_011524913.1:p.Arg632Gly
XM_011526611.2:c.1894C>G	XP_011524913.1:p.Arg632Gly
XM_017026467.1:c.1849C>G	XP_016881956.1:p.Arg617Gly
XR_001753633.2:n.2019C>G
XR_001753634.2:n.1955C>G
NM_000400.4:c.1972C>G MANE Select	NP_000391.1:p.Arg658Gly