Canonical Allele Identifier: CA2585788614

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45363948-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363948G>T , CM000681.2:g.45363948G>T	GRCh38
NC_000019.9:g.45867206G>T , CM000681.1:g.45867206G>T	GRCh37
NC_000019.8:g.50559046G>T	NCBI36
NG_007067.2:g.11640C>A , LRG_461:g.11640C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.950-37C>A	ENSP00000375808.4:n.950-37C>A
ENST00000682414.1:c.950-37C>A	ENSP00000507019.1:n.950-37C>A
ENST00000682508.1:n.979-37C>A
ENST00000684218.1:c.*208-37C>A	ENSP00000507804.1:n.*208-37C>A
ENST00000684407.1:c.827-37C>A	ENSP00000507775.1:n.827-37C>A
ENST00000684458.1:c.950-37C>A	ENSP00000508260.1:n.950-37C>A
ENST00000391945.10:c.950-37C>A MANE Select	ENSP00000375809.4:n.950-37C>A
ENST00000587376.6:c.73-37C>A
ENST00000646507.1:n.1047-37C>A
ENST00000391941.6:c.878-37C>A	ENSP00000375805.2:n.878-37C>A
ENST00000391944.7:c.716-37C>A	ENSP00000375808.3:n.716-37C>A
ENST00000391945.8:c.950-37C>A	ENSP00000375809.3:n.950-37C>A
ENST00000485403.6:c.878-37C>A	ENSP00000431229.2:n.878-37C>A
ENST00000587376.5:c.73-37C>A
NM_000400.3:c.950-37C>A , LRG_461t1:c.950-37C>A	NP_000391.1:n.950-37C>A
NM_001130867.1:c.878-37C>A	NP_001124339.1:n.878-37C>A
XM_011526611.1:c.872-37C>A	XP_011524913.1:n.872-37C>A
XR_935763.1:n.997-37C>A
XM_011526611.2:c.872-37C>A	XP_011524913.1:n.872-37C>A
XM_017026467.1:c.827-37C>A	XP_016881956.1:n.827-37C>A
XR_001753633.2:n.997-37C>A
XR_001753634.2:n.997-37C>A
NM_000400.4:c.950-37C>A MANE Select	NP_000391.1:n.950-37C>A
NM_001130867.2:c.878-37C>A	NP_001124339.1:n.878-37C>A