Canonical Allele Identifier: CA406363823

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856041C>T (hg19) ; chr19:g.45352783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352783C>T , CM000681.2:g.45352783C>T	GRCh38
NC_000019.9:g.45856041C>T , CM000681.1:g.45856041C>T	GRCh37
NC_000019.8:g.50547881C>T	NCBI36
NG_007067.2:g.22805G>A , LRG_461:g.22805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1865G>A	ENSP00000375808.4:p.Gly622Asp
ENST00000682414.1:c.1865G>A	ENSP00000507019.1:p.Gly622Asp
ENST00000682508.1:n.1894G>A
ENST00000684218.1:c.*1123G>A	ENSP00000507804.1:n.*1123G>A
ENST00000684264.1:n.1421G>A
ENST00000684407.1:c.1742G>A	ENSP00000507775.1:p.Gly581Asp
ENST00000684458.1:c.*351G>A	ENSP00000508260.1:n.*351G>A
ENST00000684468.1:n.1577G>A
ENST00000391945.10:c.1865G>A MANE Select	ENSP00000375809.4:p.Gly622Asp
ENST00000646507.1:n.1962G>A
ENST00000391941.6:c.1793G>A	ENSP00000375805.2:p.Gly598Asp
ENST00000391942.6:n.1036G>A
ENST00000391944.7:c.1631G>A	ENSP00000375808.3:p.Gly544Asp
ENST00000391945.8:c.1865G>A	ENSP00000375809.3:p.Gly622Asp
ENST00000588652.5:n.1953G>A
NM_000400.3:c.1865G>A , LRG_461t1:c.1865G>A	NP_000391.1:p.Gly622Asp
XM_011526611.1:c.1787G>A	XP_011524913.1:p.Gly596Asp
XM_011526611.2:c.1787G>A	XP_011524913.1:p.Gly596Asp
XM_017026467.1:c.1742G>A	XP_016881956.1:p.Gly581Asp
XR_001753633.2:n.1912G>A
XR_001753634.2:n.1848G>A
NM_000400.4:c.1865G>A MANE Select	NP_000391.1:p.Gly622Asp