Canonical Allele Identifier: CA507953385

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352578-G-A
• MyVariant Identifiers: chr19:g.45855836G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352578G>A , CM000681.2:g.45352578G>A	GRCh38
NC_000019.9:g.45855836G>A , CM000681.1:g.45855836G>A	GRCh37
NC_000019.8:g.50547676G>A	NCBI36
NG_007067.2:g.23010C>T , LRG_461:g.23010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1974C>T	ENSP00000375808.4:p.Arg658=
ENST00000682414.1:c.1974C>T	ENSP00000507019.1:p.Arg658=
ENST00000682508.1:n.2003C>T
ENST00000684218.1:c.*1232C>T	ENSP00000507804.1:n.*1232C>T
ENST00000684264.1:n.1530C>T
ENST00000684407.1:c.1851C>T	ENSP00000507775.1:p.Arg617=
ENST00000684458.1:c.*460C>T	ENSP00000508260.1:n.*460C>T
ENST00000684468.1:n.1686C>T
ENST00000391945.10:c.1974C>T MANE Select	ENSP00000375809.4:p.Arg658=
ENST00000646507.1:n.2071C>T
ENST00000391941.6:c.1902C>T	ENSP00000375805.2:p.Arg634=
ENST00000391942.6:n.1145C>T
ENST00000391944.7:c.1740C>T	ENSP00000375808.3:p.Arg580=
ENST00000391945.8:c.1974C>T	ENSP00000375809.3:p.Arg658=
ENST00000588652.5:n.2062C>T
NM_000400.3:c.1974C>T , LRG_461t1:c.1974C>T	NP_000391.1:p.Arg658=
XM_011526611.1:c.1896C>T	XP_011524913.1:p.Arg632=
XM_011526611.2:c.1896C>T	XP_011524913.1:p.Arg632=
XM_017026467.1:c.1851C>T	XP_016881956.1:p.Arg617=
XR_001753633.2:n.2021C>T
XR_001753634.2:n.1957C>T
NM_000400.4:c.1974C>T MANE Select	NP_000391.1:p.Arg658=