Canonical Allele Identifier: CA2338388627
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352157_45352160delinsTGGA , CM000681.2:g.45352157_45352160delinsTGGA GRCh38
NC_000019.9:g.45855415_45855418delinsTGGA , CM000681.1:g.45855415_45855418delinsTGGA GRCh37
NC_000019.8:g.50547255_50547258delinsTGGA NCBI36
NG_007067.2:g.23428_23431delinsTCCA , LRG_461:g.23428_23431delinsTCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2190+49_2190+52delinsTCCA MANE Select ENSP00000375809.4:p.=
ENST00000646507.1:n.2287+49_2287+52delinsTCCA
ENST00000391942.6:n.1361+49_1361+52delinsTCCA
ENST00000391944.7:c.1956+49_1956+52delinsTCCA ENSP00000375808.3:p.=
ENST00000391945.8:c.2190+49_2190+52delinsTCCA ENSP00000375809.3:p.=
ENST00000588652.5:n.2278+49_2278+52delinsTCCA
NM_000400.3:c.2190+49_2190+52delinsTCCA , LRG_461t1:c.2190+49_2190+52delinsTCCA NP_000391.1:p.=
XM_011526611.1:c.2112+49_2112+52delinsTCCA XP_011524913.1:p.=
XM_011526611.2:c.2112+49_2112+52delinsTCCA XP_011524913.1:p.=
XM_017026467.1:c.2067+49_2067+52delinsTCCA XP_016881956.1:p.=
XR_001753633.2:n.2237+49_2237+52delinsTCCA
XR_001753634.2:n.2173+49_2173+52delinsTCCA
NM_000400.4:c.2190+49_2190+52delinsTCCA MANE Select NP_000391.1:p.=