Canonical Allele Identifier: CA9513078

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353125G>A , CM000681.2:g.45353125G>A	GRCh38
NC_000019.9:g.45856383G>A , CM000681.1:g.45856383G>A	GRCh37
NC_000019.8:g.50548223G>A	NCBI36
NG_007067.2:g.22463C>T , LRG_461:g.22463C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1789C>T MANE Select	NP_000391.1:p.Leu597=
ENST00000391945.10:c.1789C>T MANE Select	ENSP00000375809.4:p.Leu597=
NM_000400.3:c.1789C>T , LRG_461t1:c.1789C>T	NP_000391.1:p.Leu597=
ENST00000391941.6:c.1717C>T	ENSP00000375805.2:p.Leu573=
ENST00000391942.6:n.960C>T
ENST00000391944.7:c.1555C>T	ENSP00000375808.3:p.Leu519=
ENST00000391944.8:c.1789C>T	ENSP00000375808.4:p.Leu597=
ENST00000391945.8:c.1789C>T	ENSP00000375809.3:p.Leu597=
ENST00000588652.5:n.1877C>T
ENST00000646507.1:n.1886C>T
ENST00000682414.1:c.1789C>T	ENSP00000507019.1:p.Leu597=
ENST00000682508.1:n.1818C>T
ENST00000684218.1:c.*1047C>T	ENSP00000507804.1:n.*1047C>T
ENST00000684264.1:n.1345C>T
ENST00000684407.1:c.1666C>T	ENSP00000507775.1:p.Leu556=
ENST00000684458.1:c.*275C>T	ENSP00000508260.1:n.*275C>T
ENST00000684468.1:n.1501C>T
XM_011526611.1:c.1711C>T	XP_011524913.1:p.Leu571=
XM_011526611.2:c.1711C>T	XP_011524913.1:p.Leu571=
XM_017026467.1:c.1666C>T	XP_016881956.1:p.Leu556=
XR_001753633.2:n.1836C>T
XR_001753634.2:n.1772C>T