Canonical Allele Identifier: CA406360860

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855473G>C (hg19) ; chr19:g.45352215G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352215G>C , CM000681.2:g.45352215G>C	GRCh38
NC_000019.9:g.45855473G>C , CM000681.1:g.45855473G>C	GRCh37
NC_000019.8:g.50547313G>C	NCBI36
NG_007067.2:g.23373C>G , LRG_461:g.23373C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2184C>G	ENSP00000375808.4:p.Phe728Leu
ENST00000682414.1:c.2184C>G	ENSP00000507019.1:p.Phe728Leu
ENST00000682508.1:n.2213C>G
ENST00000684218.1:c.*1442C>G	ENSP00000507804.1:n.*1442C>G
ENST00000684264.1:n.1740C>G
ENST00000684407.1:c.2061C>G	ENSP00000507775.1:p.Phe687Leu
ENST00000684458.1:c.*670C>G	ENSP00000508260.1:n.*670C>G
ENST00000684468.1:n.1896C>G
ENST00000391945.10:c.2184C>G MANE Select	ENSP00000375809.4:p.Phe728Leu
ENST00000646507.1:n.2281C>G
ENST00000391941.6:c.2112C>G	ENSP00000375805.2:p.Phe704Leu
ENST00000391942.6:n.1355C>G
ENST00000391944.7:c.1950C>G	ENSP00000375808.3:p.Phe650Leu
ENST00000391945.8:c.2184C>G	ENSP00000375809.3:p.Phe728Leu
ENST00000588652.5:n.2272C>G
NM_000400.3:c.2184C>G , LRG_461t1:c.2184C>G	NP_000391.1:p.Phe728Leu
XM_011526611.1:c.2106C>G	XP_011524913.1:p.Phe702Leu
XM_011526611.2:c.2106C>G	XP_011524913.1:p.Phe702Leu
XM_017026467.1:c.2061C>G	XP_016881956.1:p.Phe687Leu
XR_001753633.2:n.2231C>G
XR_001753634.2:n.2167C>G
NM_000400.4:c.2184C>G MANE Select	NP_000391.1:p.Phe728Leu