Canonical Allele Identifier: CA406362935

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855798T>C (hg19) ; chr19:g.45352540T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352540T>C , CM000681.2:g.45352540T>C	GRCh38
NC_000019.9:g.45855798T>C , CM000681.1:g.45855798T>C	GRCh37
NC_000019.8:g.50547638T>C	NCBI36
NG_007067.2:g.23048A>G , LRG_461:g.23048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2012A>G	ENSP00000375808.4:p.Lys671Arg
ENST00000682414.1:c.2012A>G	ENSP00000507019.1:p.Lys671Arg
ENST00000682508.1:n.2041A>G
ENST00000684218.1:c.*1270A>G	ENSP00000507804.1:n.*1270A>G
ENST00000684264.1:n.1568A>G
ENST00000684407.1:c.1889A>G	ENSP00000507775.1:p.Lys630Arg
ENST00000684458.1:c.*498A>G	ENSP00000508260.1:n.*498A>G
ENST00000684468.1:n.1724A>G
ENST00000391945.10:c.2012A>G MANE Select	ENSP00000375809.4:p.Lys671Arg
ENST00000646507.1:n.2109A>G
ENST00000391941.6:c.1940A>G	ENSP00000375805.2:p.Lys647Arg
ENST00000391942.6:n.1183A>G
ENST00000391944.7:c.1778A>G	ENSP00000375808.3:p.Lys593Arg
ENST00000391945.8:c.2012A>G	ENSP00000375809.3:p.Lys671Arg
ENST00000588652.5:n.2100A>G
NM_000400.3:c.2012A>G , LRG_461t1:c.2012A>G	NP_000391.1:p.Lys671Arg
XM_011526611.1:c.1934A>G	XP_011524913.1:p.Lys645Arg
XM_011526611.2:c.1934A>G	XP_011524913.1:p.Lys645Arg
XM_017026467.1:c.1889A>G	XP_016881956.1:p.Lys630Arg
XR_001753633.2:n.2059A>G
XR_001753634.2:n.1995A>G
NM_000400.4:c.2012A>G MANE Select	NP_000391.1:p.Lys671Arg