Canonical Allele Identifier: CA406367057

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860566A>C (hg19) ; chr19:g.45357308A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357308A>C , CM000681.2:g.45357308A>C	GRCh38
NC_000019.9:g.45860566A>C , CM000681.1:g.45860566A>C	GRCh37
NC_000019.8:g.50552406A>C	NCBI36
NG_007067.2:g.18280T>G , LRG_461:g.18280T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1441T>G	ENSP00000375808.4:p.Phe481Val
ENST00000682414.1:c.1441T>G	ENSP00000507019.1:p.Phe481Val
ENST00000682508.1:n.1470T>G
ENST00000684218.1:c.*699T>G	ENSP00000507804.1:n.*699T>G
ENST00000684264.1:n.997T>G
ENST00000684407.1:c.1318T>G	ENSP00000507775.1:p.Phe440Val
ENST00000684458.1:c.1371T>G	ENSP00000508260.1:p.Pro457=
ENST00000684468.1:n.1217T>G
ENST00000391945.10:c.1441T>G MANE Select	ENSP00000375809.4:p.Phe481Val
ENST00000587376.6:c.564T>G
ENST00000646507.1:n.1538T>G
ENST00000391941.6:c.1369T>G	ENSP00000375805.2:p.Phe457Val
ENST00000391942.6:n.612T>G
ENST00000391944.7:c.1207T>G	ENSP00000375808.3:p.Phe403Val
ENST00000391945.8:c.1441T>G	ENSP00000375809.3:p.Phe481Val
ENST00000587376.5:c.564T>G
ENST00000588652.5:n.1529T>G
NM_000400.3:c.1441T>G , LRG_461t1:c.1441T>G	NP_000391.1:p.Phe481Val
XM_011526611.1:c.1363T>G	XP_011524913.1:p.Phe455Val
XR_935763.1:n.1488T>G
XM_011526611.2:c.1363T>G	XP_011524913.1:p.Phe455Val
XM_017026467.1:c.1318T>G	XP_016881956.1:p.Phe440Val
XR_001753633.2:n.1488T>G
XR_001753634.2:n.1488T>G
NM_000400.4:c.1441T>G MANE Select	NP_000391.1:p.Phe481Val