Canonical Allele Identifier: CA406360328

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351661T>C , CM000681.2:g.45351661T>C	GRCh38
NC_000019.9:g.45854919T>C , CM000681.1:g.45854919T>C	GRCh37
NC_000019.8:g.50546759T>C	NCBI36
NG_007067.2:g.23927A>G , LRG_461:g.23927A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.2251A>G MANE Select	NP_000391.1:p.Lys751Glu
ENST00000391945.10:c.2251A>G MANE Select	ENSP00000375809.4:p.Lys751Glu
NM_000400.3:c.2251A>G , LRG_461t1:c.2251A>G	NP_000391.1:p.Lys751Glu
ENST00000391942.6:n.1422A>G
ENST00000391944.7:c.2017A>G	ENSP00000375808.3:p.Lys673Glu
ENST00000391944.8:c.*248A>G	ENSP00000375808.4:n.*248A>G
ENST00000391945.8:c.2251A>G	ENSP00000375809.3:p.Lys751Glu
ENST00000588652.5:n.2339A>G
ENST00000646507.1:n.2348A>G
ENST00000682414.1:c.2251A>G	ENSP00000507019.1:p.Lys751Glu
ENST00000682508.1:n.2280A>G
ENST00000684218.1:c.*1509A>G	ENSP00000507804.1:n.*1509A>G
ENST00000684264.1:n.1807A>G
ENST00000684407.1:c.2128A>G	ENSP00000507775.1:p.Lys710Glu
ENST00000684458.1:c.*737A>G	ENSP00000508260.1:n.*737A>G
ENST00000684468.1:n.1963A>G
XM_011526611.1:c.2173A>G	XP_011524913.1:p.Lys725Glu
XM_011526611.2:c.2173A>G	XP_011524913.1:p.Lys725Glu
XM_017026467.1:c.2128A>G	XP_016881956.1:p.Lys710Glu
XR_001753633.2:n.2298A>G