Canonical Allele Identifier: CA406364278

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856501T>C (hg19) ; chr19:g.45353243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353243T>C , CM000681.2:g.45353243T>C	GRCh38
NC_000019.9:g.45856501T>C , CM000681.1:g.45856501T>C	GRCh37
NC_000019.8:g.50548341T>C	NCBI36
NG_007067.2:g.22345A>G , LRG_461:g.22345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1757A>G	ENSP00000375808.4:p.Glu586Gly
ENST00000682414.1:c.1757A>G	ENSP00000507019.1:p.Glu586Gly
ENST00000682508.1:n.1786A>G
ENST00000684218.1:c.*1015A>G	ENSP00000507804.1:n.*1015A>G
ENST00000684264.1:n.1313A>G
ENST00000684407.1:c.1634A>G	ENSP00000507775.1:p.Glu545Gly
ENST00000684458.1:c.*243A>G	ENSP00000508260.1:n.*243A>G
ENST00000684468.1:n.1469A>G
ENST00000391945.10:c.1757A>G MANE Select	ENSP00000375809.4:p.Glu586Gly
ENST00000587376.6:c.816A>G
ENST00000646507.1:n.1854A>G
ENST00000391941.6:c.1685A>G	ENSP00000375805.2:p.Glu562Gly
ENST00000391942.6:n.928A>G
ENST00000391944.7:c.1523A>G	ENSP00000375808.3:p.Glu508Gly
ENST00000391945.8:c.1757A>G	ENSP00000375809.3:p.Glu586Gly
ENST00000587376.5:c.816A>G
ENST00000588652.5:n.1845A>G
NM_000400.3:c.1757A>G , LRG_461t1:c.1757A>G	NP_000391.1:p.Glu586Gly
XM_011526611.1:c.1679A>G	XP_011524913.1:p.Glu560Gly
XR_935763.1:n.1740A>G
XM_011526611.2:c.1679A>G	XP_011524913.1:p.Glu560Gly
XM_017026467.1:c.1634A>G	XP_016881956.1:p.Glu545Gly
XR_001753633.2:n.1804A>G
XR_001753634.2:n.1740A>G
NM_000400.4:c.1757A>G MANE Select	NP_000391.1:p.Glu586Gly