Canonical Allele Identifier: CA406362390

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855579A>T (hg19) ; chr19:g.45352321A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352321A>T , CM000681.2:g.45352321A>T	GRCh38
NC_000019.9:g.45855579A>T , CM000681.1:g.45855579A>T	GRCh37
NC_000019.8:g.50547419A>T	NCBI36
NG_007067.2:g.23267T>A , LRG_461:g.23267T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2078T>A	ENSP00000375808.4:p.Leu693Gln
ENST00000682414.1:c.2078T>A	ENSP00000507019.1:p.Leu693Gln
ENST00000682508.1:n.2107T>A
ENST00000684218.1:c.*1336T>A	ENSP00000507804.1:n.*1336T>A
ENST00000684264.1:n.1634T>A
ENST00000684407.1:c.1955T>A	ENSP00000507775.1:p.Leu652Gln
ENST00000684458.1:c.*564T>A	ENSP00000508260.1:n.*564T>A
ENST00000684468.1:n.1790T>A
ENST00000391945.10:c.2078T>A MANE Select	ENSP00000375809.4:p.Leu693Gln
ENST00000646507.1:n.2175T>A
ENST00000391941.6:c.2006T>A	ENSP00000375805.2:p.Leu669Gln
ENST00000391942.6:n.1249T>A
ENST00000391944.7:c.1844T>A	ENSP00000375808.3:p.Leu615Gln
ENST00000391945.8:c.2078T>A	ENSP00000375809.3:p.Leu693Gln
ENST00000588652.5:n.2166T>A
NM_000400.3:c.2078T>A , LRG_461t1:c.2078T>A	NP_000391.1:p.Leu693Gln
XM_011526611.1:c.2000T>A	XP_011524913.1:p.Leu667Gln
XM_011526611.2:c.2000T>A	XP_011524913.1:p.Leu667Gln
XM_017026467.1:c.1955T>A	XP_016881956.1:p.Leu652Gln
XR_001753633.2:n.2125T>A
XR_001753634.2:n.2061T>A
NM_000400.4:c.2078T>A MANE Select	NP_000391.1:p.Leu693Gln