Canonical Allele Identifier: CA9513291

Gene: ERCC2

Linked Data

• dbSNP Id: rs777782442
• ExAC: 19:45860559 A / G
• gnomAD v2: 19-45860559-A-G
• gnomAD v4: 19-45357301-A-G
• MyVariant Identifiers: chr19:g.45860559A>G (hg19) ; chr19:g.45357301A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357301A>G , CM000681.2:g.45357301A>G	GRCh38
NC_000019.9:g.45860559A>G , CM000681.1:g.45860559A>G	GRCh37
NC_000019.8:g.50552399A>G	NCBI36
NG_007067.2:g.18287T>C , LRG_461:g.18287T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1448T>C	ENSP00000375808.4:p.Met483Thr
ENST00000682414.1:c.1448T>C	ENSP00000507019.1:p.Met483Thr
ENST00000682508.1:n.1477T>C
ENST00000684218.1:c.*706T>C	ENSP00000507804.1:n.*706T>C
ENST00000684264.1:n.1004T>C
ENST00000684407.1:c.1325T>C	ENSP00000507775.1:p.Met442Thr
ENST00000684458.1:c.1378T>C	ENSP00000508260.1:p.Ter460Arg
ENST00000684468.1:n.1224T>C
ENST00000391945.10:c.1448T>C MANE Select	ENSP00000375809.4:p.Met483Thr
ENST00000587376.6:c.571T>C
ENST00000646507.1:n.1545T>C
ENST00000391941.6:c.1376T>C	ENSP00000375805.2:p.Met459Thr
ENST00000391942.6:n.619T>C
ENST00000391944.7:c.1214T>C	ENSP00000375808.3:p.Met405Thr
ENST00000391945.8:c.1448T>C	ENSP00000375809.3:p.Met483Thr
ENST00000587376.5:c.571T>C
ENST00000588652.5:n.1536T>C
NM_000400.3:c.1448T>C , LRG_461t1:c.1448T>C	NP_000391.1:p.Met483Thr
XM_011526611.1:c.1370T>C	XP_011524913.1:p.Met457Thr
XR_935763.1:n.1495T>C
XM_011526611.2:c.1370T>C	XP_011524913.1:p.Met457Thr
XM_017026467.1:c.1325T>C	XP_016881956.1:p.Met442Thr
XR_001753633.2:n.1495T>C
XR_001753634.2:n.1495T>C
NM_000400.4:c.1448T>C MANE Select	NP_000391.1:p.Met483Thr