Canonical Allele Identifier: CA9512976
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 430093
ClinVar RCV Id: RCV000494513
dbSNP Id: rs773359656

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352646G>A , CM000681.2:g.45352646G>A GRCh38
NC_000019.9:g.45855904G>A , CM000681.1:g.45855904G>A GRCh37
NC_000019.8:g.50547744G>A NCBI36
NG_007067.2:g.22942C>T , LRG_461:g.22942C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.1906C>T MANE Select ENSP00000375809.4:p.Arg636Trp
ENST00000646507.1:n.2003C>T
ENST00000391941.6:c.1834C>T ENSP00000375805.2:p.Arg612Trp
ENST00000391942.6:n.1077C>T
ENST00000391944.7:c.1672C>T ENSP00000375808.3:p.Arg558Trp
ENST00000391945.8:c.1906C>T ENSP00000375809.3:p.Arg636Trp
ENST00000588652.5:n.1994C>T
NM_000400.3:c.1906C>T , LRG_461t1:c.1906C>T NP_000391.1:p.Arg636Trp
XM_011526611.1:c.1828C>T XP_011524913.1:p.Arg610Trp
XM_011526611.2:c.1828C>T XP_011524913.1:p.Arg610Trp
XM_017026467.1:c.1783C>T XP_016881956.1:p.Arg595Trp
XR_001753633.2:n.1953C>T
XR_001753634.2:n.1889C>T
NM_000400.4:c.1906C>T MANE Select NP_000391.1:p.Arg636Trp