Canonical Allele Identifier: CA9512870

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352256G>A , CM000681.2:g.45352256G>A	GRCh38
NC_000019.9:g.45855514G>A , CM000681.1:g.45855514G>A	GRCh37
NC_000019.8:g.50547354G>A	NCBI36
NG_007067.2:g.23332C>T , LRG_461:g.23332C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.2143C>T MANE Select	NP_000391.1:p.Gln715Ter
ENST00000391945.10:c.2143C>T MANE Select	ENSP00000375809.4:p.Gln715Ter
NM_000400.3:c.2143C>T , LRG_461t1:c.2143C>T	NP_000391.1:p.Gln715Ter
ENST00000391941.6:c.2071C>T	ENSP00000375805.2:p.Gln691Ter
ENST00000391942.6:n.1314C>T
ENST00000391944.7:c.1909C>T	ENSP00000375808.3:p.Gln637Ter
ENST00000391944.8:c.2143C>T	ENSP00000375808.4:p.Gln715Ter
ENST00000391945.8:c.2143C>T	ENSP00000375809.3:p.Gln715Ter
ENST00000588652.5:n.2231C>T
ENST00000646507.1:n.2240C>T
ENST00000682414.1:c.2143C>T	ENSP00000507019.1:p.Gln715Ter
ENST00000682508.1:n.2172C>T
ENST00000684218.1:c.*1401C>T	ENSP00000507804.1:n.*1401C>T
ENST00000684264.1:n.1699C>T
ENST00000684407.1:c.2020C>T	ENSP00000507775.1:p.Gln674Ter
ENST00000684458.1:c.*629C>T	ENSP00000508260.1:n.*629C>T
ENST00000684468.1:n.1855C>T
XM_011526611.1:c.2065C>T	XP_011524913.1:p.Gln689Ter
XM_011526611.2:c.2065C>T	XP_011524913.1:p.Gln689Ter
XM_017026467.1:c.2020C>T	XP_016881956.1:p.Gln674Ter
XR_001753633.2:n.2190C>T
XR_001753634.2:n.2126C>T