Canonical Allele Identifier: CA9512865
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs780241951

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352238G>A , CM000681.2:g.45352238G>A GRCh38
NC_000019.9:g.45855496G>A , CM000681.1:g.45855496G>A GRCh37
NC_000019.8:g.50547336G>A NCBI36
NG_007067.2:g.23350C>T , LRG_461:g.23350C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2161C>T MANE Select ENSP00000375809.4:p.Leu721=
ENST00000646507.1:n.2258C>T
ENST00000391941.6:c.2089C>T ENSP00000375805.2:p.Leu697=
ENST00000391942.6:n.1332C>T
ENST00000391944.7:c.1927C>T ENSP00000375808.3:p.Leu643=
ENST00000391945.8:c.2161C>T ENSP00000375809.3:p.Leu721=
ENST00000588652.5:n.2249C>T
NM_000400.3:c.2161C>T , LRG_461t1:c.2161C>T NP_000391.1:p.Leu721=
XM_011526611.1:c.2083C>T XP_011524913.1:p.Leu695=
XM_011526611.2:c.2083C>T XP_011524913.1:p.Leu695=
XM_017026467.1:c.2038C>T XP_016881956.1:p.Leu680=
XR_001753633.2:n.2208C>T
XR_001753634.2:n.2144C>T
NM_000400.4:c.2161C>T MANE Select NP_000391.1:p.Leu721=