Canonical Allele Identifier: CA507953277

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855500G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352242G>A , CM000681.2:g.45352242G>A	GRCh38
NC_000019.9:g.45855500G>A , CM000681.1:g.45855500G>A	GRCh37
NC_000019.8:g.50547340G>A	NCBI36
NG_007067.2:g.23346C>T , LRG_461:g.23346C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2157C>T	ENSP00000375808.4:p.Tyr719=
ENST00000682414.1:c.2157C>T	ENSP00000507019.1:p.Tyr719=
ENST00000682508.1:n.2186C>T
ENST00000684218.1:c.*1415C>T	ENSP00000507804.1:n.*1415C>T
ENST00000684264.1:n.1713C>T
ENST00000684407.1:c.2034C>T	ENSP00000507775.1:p.Tyr678=
ENST00000684458.1:c.*643C>T	ENSP00000508260.1:n.*643C>T
ENST00000684468.1:n.1869C>T
ENST00000391945.10:c.2157C>T MANE Select	ENSP00000375809.4:p.Tyr719=
ENST00000646507.1:n.2254C>T
ENST00000391941.6:c.2085C>T	ENSP00000375805.2:p.Tyr695=
ENST00000391942.6:n.1328C>T
ENST00000391944.7:c.1923C>T	ENSP00000375808.3:p.Tyr641=
ENST00000391945.8:c.2157C>T	ENSP00000375809.3:p.Tyr719=
ENST00000588652.5:n.2245C>T
NM_000400.3:c.2157C>T , LRG_461t1:c.2157C>T	NP_000391.1:p.Tyr719=
XM_011526611.1:c.2079C>T	XP_011524913.1:p.Tyr693=
XM_011526611.2:c.2079C>T	XP_011524913.1:p.Tyr693=
XM_017026467.1:c.2034C>T	XP_016881956.1:p.Tyr678=
XR_001753633.2:n.2204C>T
XR_001753634.2:n.2140C>T
NM_000400.4:c.2157C>T MANE Select	NP_000391.1:p.Tyr719=