Canonical Allele Identifier: CA406363805

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352778-G-T
• MyVariant Identifiers: chr19:g.45856036G>T (hg19) ; chr19:g.45352778G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352778G>T , CM000681.2:g.45352778G>T	GRCh38
NC_000019.9:g.45856036G>T , CM000681.1:g.45856036G>T	GRCh37
NC_000019.8:g.50547876G>T	NCBI36
NG_007067.2:g.22810C>A , LRG_461:g.22810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1870C>A	ENSP00000375808.4:p.Pro624Thr
ENST00000682414.1:c.1870C>A	ENSP00000507019.1:p.Pro624Thr
ENST00000682508.1:n.1899C>A
ENST00000684218.1:c.*1128C>A	ENSP00000507804.1:n.*1128C>A
ENST00000684264.1:n.1426C>A
ENST00000684407.1:c.1747C>A	ENSP00000507775.1:p.Pro583Thr
ENST00000684458.1:c.*356C>A	ENSP00000508260.1:n.*356C>A
ENST00000684468.1:n.1582C>A
ENST00000391945.10:c.1870C>A MANE Select	ENSP00000375809.4:p.Pro624Thr
ENST00000646507.1:n.1967C>A
ENST00000391941.6:c.1798C>A	ENSP00000375805.2:p.Pro600Thr
ENST00000391942.6:n.1041C>A
ENST00000391944.7:c.1636C>A	ENSP00000375808.3:p.Pro546Thr
ENST00000391945.8:c.1870C>A	ENSP00000375809.3:p.Pro624Thr
ENST00000588652.5:n.1958C>A
NM_000400.3:c.1870C>A , LRG_461t1:c.1870C>A	NP_000391.1:p.Pro624Thr
XM_011526611.1:c.1792C>A	XP_011524913.1:p.Pro598Thr
XM_011526611.2:c.1792C>A	XP_011524913.1:p.Pro598Thr
XM_017026467.1:c.1747C>A	XP_016881956.1:p.Pro583Thr
XR_001753633.2:n.1917C>A
XR_001753634.2:n.1853C>A
NM_000400.4:c.1870C>A MANE Select	NP_000391.1:p.Pro624Thr