Canonical Allele Identifier: CA406360598
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45351715G>A , CM000681.2:g.45351715G>A GRCh38
NC_000019.9:g.45854973G>A , CM000681.1:g.45854973G>A GRCh37
NC_000019.8:g.50546813G>A NCBI36
NG_007067.2:g.23873C>T , LRG_461:g.23873C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.*194C>T ENSP00000375808.4:n.*194C>T
ENST00000682414.1:c.2197C>T ENSP00000507019.1:p.Gln733Ter
ENST00000682508.1:n.2226C>T
ENST00000684218.1:c.*1455C>T ENSP00000507804.1:n.*1455C>T
ENST00000684264.1:n.1753C>T
ENST00000684407.1:c.2074C>T ENSP00000507775.1:p.Gln692Ter
ENST00000684458.1:c.*683C>T ENSP00000508260.1:n.*683C>T
ENST00000684468.1:n.1909C>T
ENST00000391945.10:c.2197C>T MANE Select ENSP00000375809.4:p.Gln733Ter
ENST00000646507.1:n.2294C>T
ENST00000391942.6:n.1368C>T
ENST00000391944.7:c.1963C>T ENSP00000375808.3:p.Gln655Ter
ENST00000391945.8:c.2197C>T ENSP00000375809.3:p.Gln733Ter
ENST00000588652.5:n.2285C>T
NM_000400.3:c.2197C>T , LRG_461t1:c.2197C>T NP_000391.1:p.Gln733Ter
XM_011526611.1:c.2119C>T XP_011524913.1:p.Gln707Ter
XM_011526611.2:c.2119C>T XP_011524913.1:p.Gln707Ter
XM_017026467.1:c.2074C>T XP_016881956.1:p.Gln692Ter
XR_001753633.2:n.2244C>T
XR_001753634.2:n.2180C>T
NM_000400.4:c.2197C>T MANE Select NP_000391.1:p.Gln733Ter