Canonical Allele Identifier: CA507821576

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2420931
• ClinVar RCV Id: RCV003112591
• dbSNP Id: rs1972044590
• gnomAD v4: 19-45357296-G-A
• MyVariant Identifiers: chr19:g.45860554G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357296G>A , CM000681.2:g.45357296G>A	GRCh38
NC_000019.9:g.45860554G>A , CM000681.1:g.45860554G>A	GRCh37
NC_000019.8:g.50552394G>A	NCBI36
NG_007067.2:g.18292C>T , LRG_461:g.18292C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1453C>T	ENSP00000375808.4:p.Leu485=
ENST00000682414.1:c.1453C>T	ENSP00000507019.1:p.Leu485=
ENST00000682508.1:n.1482C>T
ENST00000684218.1:c.*711C>T	ENSP00000507804.1:n.*711C>T
ENST00000684264.1:n.1009C>T
ENST00000684407.1:c.1330C>T	ENSP00000507775.1:p.Leu444=
ENST00000684458.1:c.*3C>T	ENSP00000508260.1:n.*3C>T
ENST00000684468.1:n.1229C>T
ENST00000391945.10:c.1453C>T MANE Select	ENSP00000375809.4:p.Leu485=
ENST00000587376.6:c.576C>T
ENST00000646507.1:n.1550C>T
ENST00000391941.6:c.1381C>T	ENSP00000375805.2:p.Leu461=
ENST00000391942.6:n.624C>T
ENST00000391944.7:c.1219C>T	ENSP00000375808.3:p.Leu407=
ENST00000391945.8:c.1453C>T	ENSP00000375809.3:p.Leu485=
ENST00000587376.5:c.576C>T
ENST00000588652.5:n.1541C>T
NM_000400.3:c.1453C>T , LRG_461t1:c.1453C>T	NP_000391.1:p.Leu485=
XM_011526611.1:c.1375C>T	XP_011524913.1:p.Leu459=
XR_935763.1:n.1500C>T
XM_011526611.2:c.1375C>T	XP_011524913.1:p.Leu459=
XM_017026467.1:c.1330C>T	XP_016881956.1:p.Leu444=
XR_001753633.2:n.1500C>T
XR_001753634.2:n.1500C>T
NM_000400.4:c.1453C>T MANE Select	NP_000391.1:p.Leu485=