Canonical Allele Identifier: CA10652536

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 329518
• ClinVar RCV Id: RCV003698769 ; RCV000375762
• dbSNP Id: rs886054498
• gnomAD v4: 19-45363924-G-T
• MyVariant Identifiers: chr19:g.45867182G>T (hg19) ; chr19:g.45363924G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363924G>T , CM000681.2:g.45363924G>T	GRCh38
NC_000019.9:g.45867182G>T , CM000681.1:g.45867182G>T	GRCh37
NC_000019.8:g.50559022G>T	NCBI36
NG_007067.2:g.11664C>A , LRG_461:g.11664C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.950-13C>A	ENSP00000375808.4:n.950-13C>A
ENST00000682414.1:c.950-13C>A	ENSP00000507019.1:n.950-13C>A
ENST00000682508.1:n.979-13C>A
ENST00000684218.1:c.*208-13C>A	ENSP00000507804.1:n.*208-13C>A
ENST00000684407.1:c.827-13C>A	ENSP00000507775.1:n.827-13C>A
ENST00000684458.1:c.950-13C>A	ENSP00000508260.1:n.950-13C>A
ENST00000391945.10:c.950-13C>A MANE Select	ENSP00000375809.4:n.950-13C>A
ENST00000587376.6:c.73-13C>A
ENST00000646507.1:n.1047-13C>A
ENST00000391941.6:c.878-13C>A	ENSP00000375805.2:n.878-13C>A
ENST00000391944.7:c.716-13C>A	ENSP00000375808.3:n.716-13C>A
ENST00000391945.8:c.950-13C>A	ENSP00000375809.3:n.950-13C>A
ENST00000485403.6:c.878-13C>A	ENSP00000431229.2:n.878-13C>A
ENST00000587376.5:c.73-13C>A
NM_000400.3:c.950-13C>A , LRG_461t1:c.950-13C>A	NP_000391.1:n.950-13C>A
NM_001130867.1:c.878-13C>A	NP_001124339.1:n.878-13C>A
XM_011526611.1:c.872-13C>A	XP_011524913.1:n.872-13C>A
XR_935763.1:n.997-13C>A
XM_011526611.2:c.872-13C>A	XP_011524913.1:n.872-13C>A
XM_017026467.1:c.827-13C>A	XP_016881956.1:n.827-13C>A
XR_001753633.2:n.997-13C>A
XR_001753634.2:n.997-13C>A
NM_000400.4:c.950-13C>A MANE Select	NP_000391.1:n.950-13C>A
NM_001130867.2:c.878-13C>A	NP_001124339.1:n.878-13C>A