Canonical Allele Identifier: CA2338388810
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352419_45352420delinsCA , CM000681.2:g.45352419_45352420delinsCA GRCh38
NC_000019.9:g.45855677_45855678delinsCA , CM000681.1:g.45855677_45855678delinsCA GRCh37
NC_000019.8:g.50547517_50547518delinsCA NCBI36
NG_007067.2:g.23168_23169delinsTG , LRG_461:g.23168_23169delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2047-68_2047-67delinsTG ENSP00000375808.4:n.2047-68_2047-67delins...
ENST00000682414.1:c.2047-68_2047-67delinsTG ENSP00000507019.1:n.2047-68_2047-67delins...
ENST00000682508.1:n.2076-68_2076-67delinsTG
ENST00000684218.1:c.*1305-68_*1305-67delinsTG ENSP00000507804.1:n.*1305-68_*1305-67deli...
ENST00000684264.1:n.1603-68_1603-67delinsTG
ENST00000684407.1:c.1924-68_1924-67delinsTG ENSP00000507775.1:n.1924-68_1924-67delins...
ENST00000684458.1:c.*533-68_*533-67delinsTG ENSP00000508260.1:n.*533-68_*533-67delins...
ENST00000684468.1:n.1759-68_1759-67delinsTG
ENST00000391945.10:c.2047-68_2047-67delinsTG MANE Select ENSP00000375809.4:n.2047-68_2047-67delins...
ENST00000646507.1:n.2144-68_2144-67delinsTG
ENST00000391941.6:c.1975-68_1975-67delinsTG ENSP00000375805.2:n.1975-68_1975-67delins...
ENST00000391942.6:n.1218-68_1218-67delinsTG
ENST00000391944.7:c.1813-68_1813-67delinsTG ENSP00000375808.3:n.1813-68_1813-67delins...
ENST00000391945.8:c.2047-68_2047-67delinsTG ENSP00000375809.3:n.2047-68_2047-67delins...
ENST00000588652.5:n.2135-68_2135-67delinsTG
NM_000400.3:c.2047-68_2047-67delinsTG , LRG_461t1:c.2047-68_2047-67delinsTG NP_000391.1:n.2047-68_2047-67delinsTG
XM_011526611.1:c.1969-68_1969-67delinsTG XP_011524913.1:n.1969-68_1969-67delinsTG
XM_011526611.2:c.1969-68_1969-67delinsTG XP_011524913.1:n.1969-68_1969-67delinsTG
XM_017026467.1:c.1924-68_1924-67delinsTG XP_016881956.1:n.1924-68_1924-67delinsTG
XR_001753633.2:n.2094-68_2094-67delinsTG
XR_001753634.2:n.2030-68_2030-67delinsTG
NM_000400.4:c.2047-68_2047-67delinsTG MANE Select NP_000391.1:n.2047-68_2047-67delinsTG