Canonical Allele Identifier: CA406360981

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1787010
• ClinVar RCV Id: RCV002432669
• MyVariant Identifiers: chr19:g.45855489T>C (hg19) ; chr19:g.45352231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352231T>C , CM000681.2:g.45352231T>C	GRCh38
NC_000019.9:g.45855489T>C , CM000681.1:g.45855489T>C	GRCh37
NC_000019.8:g.50547329T>C	NCBI36
NG_007067.2:g.23357A>G , LRG_461:g.23357A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2168A>G	ENSP00000375808.4:p.Gln723Arg
ENST00000682414.1:c.2168A>G	ENSP00000507019.1:p.Gln723Arg
ENST00000682508.1:n.2197A>G
ENST00000684218.1:c.*1426A>G	ENSP00000507804.1:n.*1426A>G
ENST00000684264.1:n.1724A>G
ENST00000684407.1:c.2045A>G	ENSP00000507775.1:p.Gln682Arg
ENST00000684458.1:c.*654A>G	ENSP00000508260.1:n.*654A>G
ENST00000684468.1:n.1880A>G
ENST00000391945.10:c.2168A>G MANE Select	ENSP00000375809.4:p.Gln723Arg
ENST00000646507.1:n.2265A>G
ENST00000391941.6:c.2096A>G	ENSP00000375805.2:p.Gln699Arg
ENST00000391942.6:n.1339A>G
ENST00000391944.7:c.1934A>G	ENSP00000375808.3:p.Gln645Arg
ENST00000391945.8:c.2168A>G	ENSP00000375809.3:p.Gln723Arg
ENST00000588652.5:n.2256A>G
NM_000400.3:c.2168A>G , LRG_461t1:c.2168A>G	NP_000391.1:p.Gln723Arg
XM_011526611.1:c.2090A>G	XP_011524913.1:p.Gln697Arg
XM_011526611.2:c.2090A>G	XP_011524913.1:p.Gln697Arg
XM_017026467.1:c.2045A>G	XP_016881956.1:p.Gln682Arg
XR_001753633.2:n.2215A>G
XR_001753634.2:n.2151A>G
NM_000400.4:c.2168A>G MANE Select	NP_000391.1:p.Gln723Arg