Canonical Allele Identifier: CA9513292

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2447130
• ClinVar RCV Id: RCV003176318 ; RCV003778943
• dbSNP Id: rs753890075
• ExAC: 19:45860564 G / A
• gnomAD v2: 19-45860564-G-A
• gnomAD v4: 19-45357306-G-A
• MyVariant Identifiers: chr19:g.45860564G>A (hg19) ; chr19:g.45357306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357306G>A , CM000681.2:g.45357306G>A	GRCh38
NC_000019.9:g.45860564G>A , CM000681.1:g.45860564G>A	GRCh37
NC_000019.8:g.50552404G>A	NCBI36
NG_007067.2:g.18282C>T , LRG_461:g.18282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1443C>T	ENSP00000375808.4:p.Phe481=
ENST00000682414.1:c.1443C>T	ENSP00000507019.1:p.Phe481=
ENST00000682508.1:n.1472C>T
ENST00000684218.1:c.*701C>T	ENSP00000507804.1:n.*701C>T
ENST00000684264.1:n.999C>T
ENST00000684407.1:c.1320C>T	ENSP00000507775.1:p.Phe440=
ENST00000684458.1:c.1373C>T	ENSP00000508260.1:p.Ser458Leu
ENST00000684468.1:n.1219C>T
ENST00000391945.10:c.1443C>T MANE Select	ENSP00000375809.4:p.Phe481=
ENST00000587376.6:c.566C>T
ENST00000646507.1:n.1540C>T
ENST00000391941.6:c.1371C>T	ENSP00000375805.2:p.Phe457=
ENST00000391942.6:n.614C>T
ENST00000391944.7:c.1209C>T	ENSP00000375808.3:p.Phe403=
ENST00000391945.8:c.1443C>T	ENSP00000375809.3:p.Phe481=
ENST00000587376.5:c.566C>T
ENST00000588652.5:n.1531C>T
NM_000400.3:c.1443C>T , LRG_461t1:c.1443C>T	NP_000391.1:p.Phe481=
XM_011526611.1:c.1365C>T	XP_011524913.1:p.Phe455=
XR_935763.1:n.1490C>T
XM_011526611.2:c.1365C>T	XP_011524913.1:p.Phe455=
XM_017026467.1:c.1320C>T	XP_016881956.1:p.Phe440=
XR_001753633.2:n.1490C>T
XR_001753634.2:n.1490C>T
NM_000400.4:c.1443C>T MANE Select	NP_000391.1:p.Phe481=