Canonical Allele Identifier: CA507818631

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352215-G-A
• MyVariant Identifiers: chr19:g.45855473G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352215G>A , CM000681.2:g.45352215G>A	GRCh38
NC_000019.9:g.45855473G>A , CM000681.1:g.45855473G>A	GRCh37
NC_000019.8:g.50547313G>A	NCBI36
NG_007067.2:g.23373C>T , LRG_461:g.23373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2184C>T	ENSP00000375808.4:p.Phe728=
ENST00000682414.1:c.2184C>T	ENSP00000507019.1:p.Phe728=
ENST00000682508.1:n.2213C>T
ENST00000684218.1:c.*1442C>T	ENSP00000507804.1:n.*1442C>T
ENST00000684264.1:n.1740C>T
ENST00000684407.1:c.2061C>T	ENSP00000507775.1:p.Phe687=
ENST00000684458.1:c.*670C>T	ENSP00000508260.1:n.*670C>T
ENST00000684468.1:n.1896C>T
ENST00000391945.10:c.2184C>T MANE Select	ENSP00000375809.4:p.Phe728=
ENST00000646507.1:n.2281C>T
ENST00000391941.6:c.2112C>T	ENSP00000375805.2:p.Phe704=
ENST00000391942.6:n.1355C>T
ENST00000391944.7:c.1950C>T	ENSP00000375808.3:p.Phe650=
ENST00000391945.8:c.2184C>T	ENSP00000375809.3:p.Phe728=
ENST00000588652.5:n.2272C>T
NM_000400.3:c.2184C>T , LRG_461t1:c.2184C>T	NP_000391.1:p.Phe728=
XM_011526611.1:c.2106C>T	XP_011524913.1:p.Phe702=
XM_011526611.2:c.2106C>T	XP_011524913.1:p.Phe702=
XM_017026467.1:c.2061C>T	XP_016881956.1:p.Phe687=
XR_001753633.2:n.2231C>T
XR_001753634.2:n.2167C>T
NM_000400.4:c.2184C>T MANE Select	NP_000391.1:p.Phe728=