Canonical Allele Identifier: CA406362797

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855783A>C (hg19) ; chr19:g.45352525A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352525A>C , CM000681.2:g.45352525A>C	GRCh38
NC_000019.9:g.45855783A>C , CM000681.1:g.45855783A>C	GRCh37
NC_000019.8:g.50547623A>C	NCBI36
NG_007067.2:g.23063T>G , LRG_461:g.23063T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2027T>G	ENSP00000375808.4:p.Leu676Arg
ENST00000682414.1:c.2027T>G	ENSP00000507019.1:p.Leu676Arg
ENST00000682508.1:n.2056T>G
ENST00000684218.1:c.*1285T>G	ENSP00000507804.1:n.*1285T>G
ENST00000684264.1:n.1583T>G
ENST00000684407.1:c.1904T>G	ENSP00000507775.1:p.Leu635Arg
ENST00000684458.1:c.*513T>G	ENSP00000508260.1:n.*513T>G
ENST00000684468.1:n.1739T>G
ENST00000391945.10:c.2027T>G MANE Select	ENSP00000375809.4:p.Leu676Arg
ENST00000646507.1:n.2124T>G
ENST00000391941.6:c.1955T>G	ENSP00000375805.2:p.Leu652Arg
ENST00000391942.6:n.1198T>G
ENST00000391944.7:c.1793T>G	ENSP00000375808.3:p.Leu598Arg
ENST00000391945.8:c.2027T>G	ENSP00000375809.3:p.Leu676Arg
ENST00000588652.5:n.2115T>G
NM_000400.3:c.2027T>G , LRG_461t1:c.2027T>G	NP_000391.1:p.Leu676Arg
XM_011526611.1:c.1949T>G	XP_011524913.1:p.Leu650Arg
XM_011526611.2:c.1949T>G	XP_011524913.1:p.Leu650Arg
XM_017026467.1:c.1904T>G	XP_016881956.1:p.Leu635Arg
XR_001753633.2:n.2074T>G
XR_001753634.2:n.2010T>G
NM_000400.4:c.2027T>G MANE Select	NP_000391.1:p.Leu676Arg