Canonical Allele Identifier: CA406373829

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45867366G>T (hg19) ; chr19:g.45364108G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364108G>T , CM000681.2:g.45364108G>T	GRCh38
NC_000019.9:g.45867366G>T , CM000681.1:g.45867366G>T	GRCh37
NC_000019.8:g.50559206G>T	NCBI36
NG_007067.2:g.11480C>A , LRG_461:g.11480C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.827C>A	ENSP00000375808.4:p.Thr276Lys
ENST00000682414.1:c.827C>A	ENSP00000507019.1:p.Thr276Lys
ENST00000682508.1:n.856C>A
ENST00000684218.1:c.*85C>A	ENSP00000507804.1:n.*85C>A
ENST00000684407.1:c.704C>A	ENSP00000507775.1:p.Thr235Lys
ENST00000684458.1:c.827C>A	ENSP00000508260.1:p.Thr276Lys
ENST00000391945.10:c.827C>A MANE Select	ENSP00000375809.4:p.Thr276Lys
ENST00000586131.6:c.755C>A	ENSP00000464887.1:p.Thr252Lys
ENST00000646507.1:n.924C>A
ENST00000391941.6:c.755C>A	ENSP00000375805.2:p.Thr252Lys
ENST00000391944.7:c.593C>A	ENSP00000375808.3:p.Thr198Lys
ENST00000391945.8:c.827C>A	ENSP00000375809.3:p.Thr276Lys
ENST00000485403.6:c.755C>A	ENSP00000431229.2:p.Thr252Lys
ENST00000586131.5:c.755C>A	ENSP00000464887.1:p.Thr252Lys
ENST00000586737.5:n.464C>A
ENST00000591309.5:c.*85C>A	ENSP00000465207.1:n.*85C>A
NM_000400.3:c.827C>A , LRG_461t1:c.827C>A	NP_000391.1:p.Thr276Lys
NM_001130867.1:c.755C>A	NP_001124339.1:p.Thr252Lys
XM_011526611.1:c.749C>A	XP_011524913.1:p.Thr250Lys
XR_935763.1:n.874C>A
XM_011526611.2:c.749C>A	XP_011524913.1:p.Thr250Lys
XM_017026467.1:c.704C>A	XP_016881956.1:p.Thr235Lys
XR_001753633.2:n.874C>A
XR_001753634.2:n.874C>A
NM_000400.4:c.827C>A MANE Select	NP_000391.1:p.Thr276Lys
NM_001130867.2:c.755C>A	NP_001124339.1:p.Thr252Lys