Canonical Allele Identifier: CA406363808

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856036G>A (hg19) ; chr19:g.45352778G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1870C>T	ENSP00000375808.4:p.Pro624Ser
ENST00000682414.1:c.1870C>T	ENSP00000507019.1:p.Pro624Ser
ENST00000682508.1:n.1899C>T
ENST00000684218.1:c.*1128C>T	ENSP00000507804.1:n.*1128C>T
ENST00000684264.1:n.1426C>T
ENST00000684407.1:c.1747C>T	ENSP00000507775.1:p.Pro583Ser
ENST00000684458.1:c.*356C>T	ENSP00000508260.1:n.*356C>T
ENST00000684468.1:n.1582C>T
ENST00000391945.10:c.1870C>T MANE Select	ENSP00000375809.4:p.Pro624Ser
ENST00000646507.1:n.1967C>T
ENST00000391941.6:c.1798C>T	ENSP00000375805.2:p.Pro600Ser
ENST00000391942.6:n.1041C>T
ENST00000391944.7:c.1636C>T	ENSP00000375808.3:p.Pro546Ser
ENST00000391945.8:c.1870C>T	ENSP00000375809.3:p.Pro624Ser
ENST00000588652.5:n.1958C>T
NM_000400.3:c.1870C>T , LRG_461t1:c.1870C>T	NP_000391.1:p.Pro624Ser
XM_011526611.1:c.1792C>T	XP_011524913.1:p.Pro598Ser
XM_011526611.2:c.1792C>T	XP_011524913.1:p.Pro598Ser
XM_017026467.1:c.1747C>T	XP_016881956.1:p.Pro583Ser
XR_001753633.2:n.1917C>T
XR_001753634.2:n.1853C>T
NM_000400.4:c.1870C>T MANE Select	NP_000391.1:p.Pro624Ser