Canonical Allele Identifier: CA9512939
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs751396839

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352538T>C , CM000681.2:g.45352538T>C GRCh38
NC_000019.9:g.45855796T>C , CM000681.1:g.45855796T>C GRCh37
NC_000019.8:g.50547636T>C NCBI36
NG_007067.2:g.23050A>G , LRG_461:g.23050A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.2014A>G ENSP00000375808.4:p.Thr672Ala
ENST00000682414.1:c.2014A>G ENSP00000507019.1:p.Thr672Ala
ENST00000682508.1:n.2043A>G
ENST00000684218.1:c.*1272A>G ENSP00000507804.1:n.*1272A>G
ENST00000684264.1:n.1570A>G
ENST00000684407.1:c.1891A>G ENSP00000507775.1:p.Thr631Ala
ENST00000684458.1:c.*500A>G ENSP00000508260.1:n.*500A>G
ENST00000684468.1:n.1726A>G
ENST00000391945.10:c.2014A>G MANE Select ENSP00000375809.4:p.Thr672Ala
ENST00000646507.1:n.2111A>G
ENST00000391941.6:c.1942A>G ENSP00000375805.2:p.Thr648Ala
ENST00000391942.6:n.1185A>G
ENST00000391944.7:c.1780A>G ENSP00000375808.3:p.Thr594Ala
ENST00000391945.8:c.2014A>G ENSP00000375809.3:p.Thr672Ala
ENST00000588652.5:n.2102A>G
NM_000400.3:c.2014A>G , LRG_461t1:c.2014A>G NP_000391.1:p.Thr672Ala
XM_011526611.1:c.1936A>G XP_011524913.1:p.Thr646Ala
XM_011526611.2:c.1936A>G XP_011524913.1:p.Thr646Ala
XM_017026467.1:c.1891A>G XP_016881956.1:p.Thr631Ala
XR_001753633.2:n.2061A>G
XR_001753634.2:n.1997A>G
NM_000400.4:c.2014A>G MANE Select NP_000391.1:p.Thr672Ala