Canonical Allele Identifier: CA406363738

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856020T>C (hg19) ; chr19:g.45352762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352762T>C , CM000681.2:g.45352762T>C	GRCh38
NC_000019.9:g.45856020T>C , CM000681.1:g.45856020T>C	GRCh37
NC_000019.8:g.50547860T>C	NCBI36
NG_007067.2:g.22826A>G , LRG_461:g.22826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1886A>G	ENSP00000375808.4:p.Gln629Arg
ENST00000682414.1:c.1886A>G	ENSP00000507019.1:p.Gln629Arg
ENST00000682508.1:n.1915A>G
ENST00000684218.1:c.*1144A>G	ENSP00000507804.1:n.*1144A>G
ENST00000684264.1:n.1442A>G
ENST00000684407.1:c.1763A>G	ENSP00000507775.1:p.Gln588Arg
ENST00000684458.1:c.*372A>G	ENSP00000508260.1:n.*372A>G
ENST00000684468.1:n.1598A>G
ENST00000391945.10:c.1886A>G MANE Select	ENSP00000375809.4:p.Gln629Arg
ENST00000646507.1:n.1983A>G
ENST00000391941.6:c.1814A>G	ENSP00000375805.2:p.Gln605Arg
ENST00000391942.6:n.1057A>G
ENST00000391944.7:c.1652A>G	ENSP00000375808.3:p.Gln551Arg
ENST00000391945.8:c.1886A>G	ENSP00000375809.3:p.Gln629Arg
ENST00000588652.5:n.1974A>G
NM_000400.3:c.1886A>G , LRG_461t1:c.1886A>G	NP_000391.1:p.Gln629Arg
XM_011526611.1:c.1808A>G	XP_011524913.1:p.Gln603Arg
XM_011526611.2:c.1808A>G	XP_011524913.1:p.Gln603Arg
XM_017026467.1:c.1763A>G	XP_016881956.1:p.Gln588Arg
XR_001753633.2:n.1933A>G
XR_001753634.2:n.1869A>G
NM_000400.4:c.1886A>G MANE Select	NP_000391.1:p.Gln629Arg