Canonical Allele Identifier: CA9513290

Gene: ERCC2

Linked Data

• dbSNP Id: rs755024070
• ExAC: 19:45860558 C / T
• gnomAD v2: 19-45860558-C-T
• MyVariant Identifiers: chr19:g.45860558C>T (hg19) ; chr19:g.45357300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357300C>T , CM000681.2:g.45357300C>T	GRCh38
NC_000019.9:g.45860558C>T , CM000681.1:g.45860558C>T	GRCh37
NC_000019.8:g.50552398C>T	NCBI36
NG_007067.2:g.18288G>A , LRG_461:g.18288G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1449G>A	ENSP00000375808.4:p.Met483Ile
ENST00000682414.1:c.1449G>A	ENSP00000507019.1:p.Met483Ile
ENST00000682508.1:n.1478G>A
ENST00000684218.1:c.*707G>A	ENSP00000507804.1:n.*707G>A
ENST00000684264.1:n.1005G>A
ENST00000684407.1:c.1326G>A	ENSP00000507775.1:p.Met442Ile
ENST00000684458.1:c.1379G>A	ENSP00000508260.1:p.Ter460=
ENST00000684468.1:n.1225G>A
ENST00000391945.10:c.1449G>A MANE Select	ENSP00000375809.4:p.Met483Ile
ENST00000587376.6:c.572G>A
ENST00000646507.1:n.1546G>A
ENST00000391941.6:c.1377G>A	ENSP00000375805.2:p.Met459Ile
ENST00000391942.6:n.620G>A
ENST00000391944.7:c.1215G>A	ENSP00000375808.3:p.Met405Ile
ENST00000391945.8:c.1449G>A	ENSP00000375809.3:p.Met483Ile
ENST00000587376.5:c.572G>A
ENST00000588652.5:n.1537G>A
NM_000400.3:c.1449G>A , LRG_461t1:c.1449G>A	NP_000391.1:p.Met483Ile
XM_011526611.1:c.1371G>A	XP_011524913.1:p.Met457Ile
XR_935763.1:n.1496G>A
XM_011526611.2:c.1371G>A	XP_011524913.1:p.Met457Ile
XM_017026467.1:c.1326G>A	XP_016881956.1:p.Met442Ile
XR_001753633.2:n.1496G>A
XR_001753634.2:n.1496G>A
NM_000400.4:c.1449G>A MANE Select	NP_000391.1:p.Met483Ile