Canonical Allele Identifier: CA507819036

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45353245-C-T
• MyVariant Identifiers: chr19:g.45856503C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353245C>T , CM000681.2:g.45353245C>T	GRCh38
NC_000019.9:g.45856503C>T , CM000681.1:g.45856503C>T	GRCh37
NC_000019.8:g.50548343C>T	NCBI36
NG_007067.2:g.22343G>A , LRG_461:g.22343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1755G>A	ENSP00000375808.4:p.Gln585=
ENST00000682414.1:c.1755G>A	ENSP00000507019.1:p.Gln585=
ENST00000682508.1:n.1784G>A
ENST00000684218.1:c.*1013G>A	ENSP00000507804.1:n.*1013G>A
ENST00000684264.1:n.1311G>A
ENST00000684407.1:c.1632G>A	ENSP00000507775.1:p.Gln544=
ENST00000684458.1:c.*241G>A	ENSP00000508260.1:n.*241G>A
ENST00000684468.1:n.1467G>A
ENST00000391945.10:c.1755G>A MANE Select	ENSP00000375809.4:p.Gln585=
ENST00000587376.6:c.814G>A
ENST00000646507.1:n.1852G>A
ENST00000391941.6:c.1683G>A	ENSP00000375805.2:p.Gln561=
ENST00000391942.6:n.926G>A
ENST00000391944.7:c.1521G>A	ENSP00000375808.3:p.Gln507=
ENST00000391945.8:c.1755G>A	ENSP00000375809.3:p.Gln585=
ENST00000587376.5:c.814G>A
ENST00000588652.5:n.1843G>A
NM_000400.3:c.1755G>A , LRG_461t1:c.1755G>A	NP_000391.1:p.Gln585=
XM_011526611.1:c.1677G>A	XP_011524913.1:p.Gln559=
XR_935763.1:n.1738G>A
XM_011526611.2:c.1677G>A	XP_011524913.1:p.Gln559=
XM_017026467.1:c.1632G>A	XP_016881956.1:p.Gln544=
XR_001753633.2:n.1802G>A
XR_001753634.2:n.1738G>A
NM_000400.4:c.1755G>A MANE Select	NP_000391.1:p.Gln585=