Canonical Allele Identifier: CA9512886

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1785980
• ClinVar RCV Id: RCV002424292
• dbSNP Id: rs778708101
• ExAC: 19:45855552 G / A
• gnomAD v2: 19-45855552-G-A
• gnomAD v4: 19-45352294-G-A
• MyVariant Identifiers: chr19:g.45855552G>A (hg19) ; chr19:g.45352294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352294G>A , CM000681.2:g.45352294G>A	GRCh38
NC_000019.9:g.45855552G>A , CM000681.1:g.45855552G>A	GRCh37
NC_000019.8:g.50547392G>A	NCBI36
NG_007067.2:g.23294C>T , LRG_461:g.23294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2105C>T	ENSP00000375808.4:p.Thr702Ile
ENST00000682414.1:c.2105C>T	ENSP00000507019.1:p.Thr702Ile
ENST00000682508.1:n.2134C>T
ENST00000684218.1:c.*1363C>T	ENSP00000507804.1:n.*1363C>T
ENST00000684264.1:n.1661C>T
ENST00000684407.1:c.1982C>T	ENSP00000507775.1:p.Thr661Ile
ENST00000684458.1:c.*591C>T	ENSP00000508260.1:n.*591C>T
ENST00000684468.1:n.1817C>T
ENST00000391945.10:c.2105C>T MANE Select	ENSP00000375809.4:p.Thr702Ile
ENST00000646507.1:n.2202C>T
ENST00000391941.6:c.2033C>T	ENSP00000375805.2:p.Thr678Ile
ENST00000391942.6:n.1276C>T
ENST00000391944.7:c.1871C>T	ENSP00000375808.3:p.Thr624Ile
ENST00000391945.8:c.2105C>T	ENSP00000375809.3:p.Thr702Ile
ENST00000588652.5:n.2193C>T
NM_000400.3:c.2105C>T , LRG_461t1:c.2105C>T	NP_000391.1:p.Thr702Ile
XM_011526611.1:c.2027C>T	XP_011524913.1:p.Thr676Ile
XM_011526611.2:c.2027C>T	XP_011524913.1:p.Thr676Ile
XM_017026467.1:c.1982C>T	XP_016881956.1:p.Thr661Ile
XR_001753633.2:n.2152C>T
XR_001753634.2:n.2088C>T
NM_000400.4:c.2105C>T MANE Select	NP_000391.1:p.Thr702Ile