Canonical Allele Identifier: CA406362012
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352245C>A , CM000681.2:g.45352245C>A GRCh38
NC_000019.9:g.45855503C>A , CM000681.1:g.45855503C>A GRCh37
NC_000019.8:g.50547343C>A NCBI36
NG_007067.2:g.23343G>T , LRG_461:g.23343G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2154G>T ENSP00000375808.4:p.Lys718Asn
ENST00000682414.1:c.2154G>T ENSP00000507019.1:p.Lys718Asn
ENST00000682508.1:n.2183G>T
ENST00000684218.1:c.*1412G>T ENSP00000507804.1:n.*1412G>T
ENST00000684264.1:n.1710G>T
ENST00000684407.1:c.2031G>T ENSP00000507775.1:p.Lys677Asn
ENST00000684458.1:c.*640G>T ENSP00000508260.1:n.*640G>T
ENST00000684468.1:n.1866G>T
ENST00000391945.10:c.2154G>T MANE Select ENSP00000375809.4:p.Lys718Asn
ENST00000646507.1:n.2251G>T
ENST00000391941.6:c.2082G>T ENSP00000375805.2:p.Lys694Asn
ENST00000391942.6:n.1325G>T
ENST00000391944.7:c.1920G>T ENSP00000375808.3:p.Lys640Asn
ENST00000391945.8:c.2154G>T ENSP00000375809.3:p.Lys718Asn
ENST00000588652.5:n.2242G>T
NM_000400.3:c.2154G>T , LRG_461t1:c.2154G>T NP_000391.1:p.Lys718Asn
XM_011526611.1:c.2076G>T XP_011524913.1:p.Lys692Asn
XM_011526611.2:c.2076G>T XP_011524913.1:p.Lys692Asn
XM_017026467.1:c.2031G>T XP_016881956.1:p.Lys677Asn
XR_001753633.2:n.2201G>T
XR_001753634.2:n.2137G>T
NM_000400.4:c.2154G>T MANE Select NP_000391.1:p.Lys718Asn