Canonical Allele Identifier: CA9513289

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1772986
• ClinVar RCV Id: RCV002394642 ; RCV003427467
• dbSNP Id: rs139370246
• ExAC: 19:45860555 C / T
• gnomAD v2: 19-45860555-C-T
• gnomAD v3: 19-45357297-C-T
• gnomAD v4: 19-45357297-C-T
• MyVariant Identifiers: chr19:g.45860555C>T (hg19) ; chr19:g.45357297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357297C>T , CM000681.2:g.45357297C>T	GRCh38
NC_000019.9:g.45860555C>T , CM000681.1:g.45860555C>T	GRCh37
NC_000019.8:g.50552395C>T	NCBI36
NG_007067.2:g.18291G>A , LRG_461:g.18291G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1452G>A	ENSP00000375808.4:p.Thr484=
ENST00000682414.1:c.1452G>A	ENSP00000507019.1:p.Thr484=
ENST00000682508.1:n.1481G>A
ENST00000684218.1:c.*710G>A	ENSP00000507804.1:n.*710G>A
ENST00000684264.1:n.1008G>A
ENST00000684407.1:c.1329G>A	ENSP00000507775.1:p.Thr443=
ENST00000684458.1:c.*2G>A	ENSP00000508260.1:n.*2G>A
ENST00000684468.1:n.1228G>A
ENST00000391945.10:c.1452G>A MANE Select	ENSP00000375809.4:p.Thr484=
ENST00000587376.6:c.575G>A
ENST00000646507.1:n.1549G>A
ENST00000391941.6:c.1380G>A	ENSP00000375805.2:p.Thr460=
ENST00000391942.6:n.623G>A
ENST00000391944.7:c.1218G>A	ENSP00000375808.3:p.Thr406=
ENST00000391945.8:c.1452G>A	ENSP00000375809.3:p.Thr484=
ENST00000587376.5:c.575G>A
ENST00000588652.5:n.1540G>A
NM_000400.3:c.1452G>A , LRG_461t1:c.1452G>A	NP_000391.1:p.Thr484=
XM_011526611.1:c.1374G>A	XP_011524913.1:p.Thr458=
XR_935763.1:n.1499G>A
XM_011526611.2:c.1374G>A	XP_011524913.1:p.Thr458=
XM_017026467.1:c.1329G>A	XP_016881956.1:p.Thr443=
XR_001753633.2:n.1499G>A
XR_001753634.2:n.1499G>A
NM_000400.4:c.1452G>A MANE Select	NP_000391.1:p.Thr484=