Canonical Allele Identifier: CA9513783

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45365053G>A , CM000681.2:g.45365053G>A	GRCh38
NC_000019.9:g.45868311G>A , CM000681.1:g.45868311G>A	GRCh37
NC_000019.8:g.50560151G>A	NCBI36
NG_007067.2:g.10535C>T , LRG_461:g.10535C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.466C>T MANE Select	NP_000391.1:p.Arg156Ter
ENST00000391945.10:c.466C>T MANE Select	ENSP00000375809.4:p.Arg156Ter
NM_000400.3:c.466C>T , LRG_461t1:c.466C>T	NP_000391.1:p.Arg156Ter
NM_001130867.1:c.394C>T	NP_001124339.1:p.Arg132Ter
NM_001130867.2:c.394C>T	NP_001124339.1:p.Arg132Ter
ENST00000391941.6:c.394C>T	ENSP00000375805.2:p.Arg132Ter
ENST00000391944.7:c.361-506C>T	ENSP00000375808.3:n.361-506C>T
ENST00000391944.8:c.466C>T	ENSP00000375808.4:p.Arg156Ter
ENST00000391945.8:c.466C>T	ENSP00000375809.3:p.Arg156Ter
ENST00000485403.6:c.394C>T	ENSP00000431229.2:p.Arg132Ter
ENST00000586131.5:c.394C>T	ENSP00000464887.1:p.Arg132Ter
ENST00000586131.6:c.394C>T	ENSP00000464887.1:p.Arg132Ter
ENST00000586441.1:n.458C>T
ENST00000586737.5:n.356-722C>T
ENST00000586856.1:c.316C>T	ENSP00000466998.1:p.Arg106Ter
ENST00000591309.5:c.361-722C>T	ENSP00000465207.1:n.361-722C>T
ENST00000646507.1:n.563C>T
ENST00000682414.1:c.466C>T	ENSP00000507019.1:p.Arg156Ter
ENST00000682508.1:n.495C>T
ENST00000684218.1:c.466C>T	ENSP00000507804.1:p.Arg156Ter
ENST00000684407.1:c.343C>T	ENSP00000507775.1:p.Arg115Ter
ENST00000684458.1:c.466C>T	ENSP00000508260.1:p.Arg156Ter
XM_011526611.1:c.388C>T	XP_011524913.1:p.Arg130Ter
XM_011526611.2:c.388C>T	XP_011524913.1:p.Arg130Ter
XM_017026467.1:c.343C>T	XP_016881956.1:p.Arg115Ter
XR_001753633.2:n.513C>T
XR_001753634.2:n.513C>T
XR_935763.1:n.513C>T