Canonical Allele Identifier: CA507953343

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2989029
• ClinVar RCV Id: RCV003849180
• dbSNP Id: rs1971834921
• gnomAD v4: 19-45352350-C-T
• MyVariant Identifiers: chr19:g.45855608C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352350C>T , CM000681.2:g.45352350C>T	GRCh38
NC_000019.9:g.45855608C>T , CM000681.1:g.45855608C>T	GRCh37
NC_000019.8:g.50547448C>T	NCBI36
NG_007067.2:g.23238G>A , LRG_461:g.23238G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2049G>A	ENSP00000375808.4:p.Arg683=
ENST00000682414.1:c.2049G>A	ENSP00000507019.1:p.Arg683=
ENST00000682508.1:n.2078G>A
ENST00000684218.1:c.*1307G>A	ENSP00000507804.1:n.*1307G>A
ENST00000684264.1:n.1605G>A
ENST00000684407.1:c.1926G>A	ENSP00000507775.1:p.Arg642=
ENST00000684458.1:c.*535G>A	ENSP00000508260.1:n.*535G>A
ENST00000684468.1:n.1761G>A
ENST00000391945.10:c.2049G>A MANE Select	ENSP00000375809.4:p.Arg683=
ENST00000646507.1:n.2146G>A
ENST00000391941.6:c.1977G>A	ENSP00000375805.2:p.Arg659=
ENST00000391942.6:n.1220G>A
ENST00000391944.7:c.1815G>A	ENSP00000375808.3:p.Arg605=
ENST00000391945.8:c.2049G>A	ENSP00000375809.3:p.Arg683=
ENST00000588652.5:n.2137G>A
NM_000400.3:c.2049G>A , LRG_461t1:c.2049G>A	NP_000391.1:p.Arg683=
XM_011526611.1:c.1971G>A	XP_011524913.1:p.Arg657=
XM_011526611.2:c.1971G>A	XP_011524913.1:p.Arg657=
XM_017026467.1:c.1926G>A	XP_016881956.1:p.Arg642=
XR_001753633.2:n.2096G>A
XR_001753634.2:n.2032G>A
NM_000400.4:c.2049G>A MANE Select	NP_000391.1:p.Arg683=