Canonical Allele Identifier: CA406373337

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364004-G-T
• MyVariant Identifiers: chr19:g.45867262G>T (hg19) ; chr19:g.45364004G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364004G>T , CM000681.2:g.45364004G>T	GRCh38
NC_000019.9:g.45867262G>T , CM000681.1:g.45867262G>T	GRCh37
NC_000019.8:g.50559102G>T	NCBI36
NG_007067.2:g.11584C>A , LRG_461:g.11584C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.931C>A	ENSP00000375808.4:p.Pro311Thr
ENST00000682414.1:c.931C>A	ENSP00000507019.1:p.Pro311Thr
ENST00000682508.1:n.960C>A
ENST00000684218.1:c.*189C>A	ENSP00000507804.1:n.*189C>A
ENST00000684407.1:c.808C>A	ENSP00000507775.1:p.Pro270Thr
ENST00000684458.1:c.931C>A	ENSP00000508260.1:p.Pro311Thr
ENST00000391945.10:c.931C>A MANE Select	ENSP00000375809.4:p.Pro311Thr
ENST00000586131.6:c.859C>A	ENSP00000464887.1:p.Pro287Thr
ENST00000587376.6:c.54C>A
ENST00000646507.1:n.1028C>A
ENST00000391941.6:c.859C>A	ENSP00000375805.2:p.Pro287Thr
ENST00000391944.7:c.697C>A	ENSP00000375808.3:p.Pro233Thr
ENST00000391945.8:c.931C>A	ENSP00000375809.3:p.Pro311Thr
ENST00000485403.6:c.859C>A	ENSP00000431229.2:p.Pro287Thr
ENST00000586131.5:c.859C>A	ENSP00000464887.1:p.Pro287Thr
ENST00000587376.5:c.54C>A
NM_000400.3:c.931C>A , LRG_461t1:c.931C>A	NP_000391.1:p.Pro311Thr
NM_001130867.1:c.859C>A	NP_001124339.1:p.Pro287Thr
XM_011526611.1:c.853C>A	XP_011524913.1:p.Pro285Thr
XR_935763.1:n.978C>A
XM_011526611.2:c.853C>A	XP_011524913.1:p.Pro285Thr
XM_017026467.1:c.808C>A	XP_016881956.1:p.Pro270Thr
XR_001753633.2:n.978C>A
XR_001753634.2:n.978C>A
NM_000400.4:c.931C>A MANE Select	NP_000391.1:p.Pro311Thr
NM_001130867.2:c.859C>A	NP_001124339.1:p.Pro287Thr