Canonical Allele Identifier: CA406367022

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860558C>A (hg19) ; chr19:g.45357300C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1449G>T	ENSP00000375808.4:p.Met483Ile
ENST00000682414.1:c.1449G>T	ENSP00000507019.1:p.Met483Ile
ENST00000682508.1:n.1478G>T
ENST00000684218.1:c.*707G>T	ENSP00000507804.1:n.*707G>T
ENST00000684264.1:n.1005G>T
ENST00000684407.1:c.1326G>T	ENSP00000507775.1:p.Met442Ile
ENST00000684458.1:c.1379G>T	ENSP00000508260.1:p.Ter460Leu
ENST00000684468.1:n.1225G>T
ENST00000391945.10:c.1449G>T MANE Select	ENSP00000375809.4:p.Met483Ile
ENST00000587376.6:c.572G>T
ENST00000646507.1:n.1546G>T
ENST00000391941.6:c.1377G>T	ENSP00000375805.2:p.Met459Ile
ENST00000391942.6:n.620G>T
ENST00000391944.7:c.1215G>T	ENSP00000375808.3:p.Met405Ile
ENST00000391945.8:c.1449G>T	ENSP00000375809.3:p.Met483Ile
ENST00000587376.5:c.572G>T
ENST00000588652.5:n.1537G>T
NM_000400.3:c.1449G>T , LRG_461t1:c.1449G>T	NP_000391.1:p.Met483Ile
XM_011526611.1:c.1371G>T	XP_011524913.1:p.Met457Ile
XR_935763.1:n.1496G>T
XM_011526611.2:c.1371G>T	XP_011524913.1:p.Met457Ile
XM_017026467.1:c.1326G>T	XP_016881956.1:p.Met442Ile
XR_001753633.2:n.1496G>T
XR_001753634.2:n.1496G>T
NM_000400.4:c.1449G>T MANE Select	NP_000391.1:p.Met483Ile