Canonical Allele Identifier: CA406360932

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352223G>T , CM000681.2:g.45352223G>T	GRCh38
NC_000019.9:g.45855481G>T , CM000681.1:g.45855481G>T	GRCh37
NC_000019.8:g.50547321G>T	NCBI36
NG_007067.2:g.23365C>A , LRG_461:g.23365C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.2176C>A MANE Select	NP_000391.1:p.Gln726Lys
ENST00000391945.10:c.2176C>A MANE Select	ENSP00000375809.4:p.Gln726Lys
NM_000400.3:c.2176C>A , LRG_461t1:c.2176C>A	NP_000391.1:p.Gln726Lys
ENST00000391941.6:c.2104C>A	ENSP00000375805.2:p.Gln702Lys
ENST00000391942.6:n.1347C>A
ENST00000391944.7:c.1942C>A	ENSP00000375808.3:p.Gln648Lys
ENST00000391944.8:c.2176C>A	ENSP00000375808.4:p.Gln726Lys
ENST00000391945.8:c.2176C>A	ENSP00000375809.3:p.Gln726Lys
ENST00000588652.5:n.2264C>A
ENST00000646507.1:n.2273C>A
ENST00000682414.1:c.2176C>A	ENSP00000507019.1:p.Gln726Lys
ENST00000682508.1:n.2205C>A
ENST00000684218.1:c.*1434C>A	ENSP00000507804.1:n.*1434C>A
ENST00000684264.1:n.1732C>A
ENST00000684407.1:c.2053C>A	ENSP00000507775.1:p.Gln685Lys
ENST00000684458.1:c.*662C>A	ENSP00000508260.1:n.*662C>A
ENST00000684468.1:n.1888C>A
XM_011526611.1:c.2098C>A	XP_011524913.1:p.Gln700Lys
XM_011526611.2:c.2098C>A	XP_011524913.1:p.Gln700Lys
XM_017026467.1:c.2053C>A	XP_016881956.1:p.Gln685Lys
XR_001753633.2:n.2223C>A
XR_001753634.2:n.2159C>A