Canonical Allele Identifier: CA406363806

Gene: ERCC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1870C>G	ENSP00000375808.4:p.Pro624Ala
ENST00000682414.1:c.1870C>G	ENSP00000507019.1:p.Pro624Ala
ENST00000682508.1:n.1899C>G
ENST00000684218.1:c.*1128C>G	ENSP00000507804.1:n.*1128C>G
ENST00000684264.1:n.1426C>G
ENST00000684407.1:c.1747C>G	ENSP00000507775.1:p.Pro583Ala
ENST00000684458.1:c.*356C>G	ENSP00000508260.1:n.*356C>G
ENST00000684468.1:n.1582C>G
ENST00000391945.10:c.1870C>G MANE Select	ENSP00000375809.4:p.Pro624Ala
ENST00000646507.1:n.1967C>G
ENST00000391941.6:c.1798C>G	ENSP00000375805.2:p.Pro600Ala
ENST00000391942.6:n.1041C>G
ENST00000391944.7:c.1636C>G	ENSP00000375808.3:p.Pro546Ala
ENST00000391945.8:c.1870C>G	ENSP00000375809.3:p.Pro624Ala
ENST00000588652.5:n.1958C>G
NM_000400.3:c.1870C>G , LRG_461t1:c.1870C>G	NP_000391.1:p.Pro624Ala
XM_011526611.1:c.1792C>G	XP_011524913.1:p.Pro598Ala
XM_011526611.2:c.1792C>G	XP_011524913.1:p.Pro598Ala
XM_017026467.1:c.1747C>G	XP_016881956.1:p.Pro583Ala
XR_001753633.2:n.1917C>G
XR_001753634.2:n.1853C>G
NM_000400.4:c.1870C>G MANE Select	NP_000391.1:p.Pro624Ala