Canonical Allele Identifier: CA2338388813
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1599724317

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352421A>G , CM000681.2:g.45352421A>G GRCh38
NC_000019.9:g.45855679A>G , CM000681.1:g.45855679A>G GRCh37
NC_000019.8:g.50547519A>G NCBI36
NG_007067.2:g.23167T>C , LRG_461:g.23167T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2047-69T>C ENSP00000375808.4:n.2047-69T>C
ENST00000682414.1:c.2047-69T>C ENSP00000507019.1:n.2047-69T>C
ENST00000682508.1:n.2076-69T>C
ENST00000684218.1:c.*1305-69T>C ENSP00000507804.1:n.*1305-69T>C
ENST00000684264.1:n.1603-69T>C
ENST00000684407.1:c.1924-69T>C ENSP00000507775.1:n.1924-69T>C
ENST00000684458.1:c.*533-69T>C ENSP00000508260.1:n.*533-69T>C
ENST00000684468.1:n.1759-69T>C
ENST00000391945.10:c.2047-69T>C MANE Select ENSP00000375809.4:n.2047-69T>C
ENST00000646507.1:n.2144-69T>C
ENST00000391941.6:c.1975-69T>C ENSP00000375805.2:n.1975-69T>C
ENST00000391942.6:n.1218-69T>C
ENST00000391944.7:c.1813-69T>C ENSP00000375808.3:n.1813-69T>C
ENST00000391945.8:c.2047-69T>C ENSP00000375809.3:n.2047-69T>C
ENST00000588652.5:n.2135-69T>C
NM_000400.3:c.2047-69T>C , LRG_461t1:c.2047-69T>C NP_000391.1:n.2047-69T>C
XM_011526611.1:c.1969-69T>C XP_011524913.1:n.1969-69T>C
XM_011526611.2:c.1969-69T>C XP_011524913.1:n.1969-69T>C
XM_017026467.1:c.1924-69T>C XP_016881956.1:n.1924-69T>C
XR_001753633.2:n.2094-69T>C
XR_001753634.2:n.2030-69T>C
NM_000400.4:c.2047-69T>C MANE Select NP_000391.1:n.2047-69T>C