Canonical Allele Identifier: CA406372750

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363844G>T , CM000681.2:g.45363844G>T	GRCh38
NC_000019.9:g.45867102G>T , CM000681.1:g.45867102G>T	GRCh37
NC_000019.8:g.50558942G>T	NCBI36
NG_007067.2:g.11744C>A , LRG_461:g.11744C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1017C>A MANE Select	NP_000391.1:p.Tyr339Ter
ENST00000391945.10:c.1017C>A MANE Select	ENSP00000375809.4:p.Tyr339Ter
NM_000400.3:c.1017C>A , LRG_461t1:c.1017C>A	NP_000391.1:p.Tyr339Ter
NM_001130867.1:c.945C>A	NP_001124339.1:p.Tyr315Ter
NM_001130867.2:c.945C>A	NP_001124339.1:p.Tyr315Ter
ENST00000391941.6:c.945C>A	ENSP00000375805.2:p.Tyr315Ter
ENST00000391944.7:c.783C>A	ENSP00000375808.3:p.Tyr261Ter
ENST00000391944.8:c.1017C>A	ENSP00000375808.4:p.Tyr339Ter
ENST00000391945.8:c.1017C>A	ENSP00000375809.3:p.Tyr339Ter
ENST00000485403.6:c.945C>A	ENSP00000431229.2:p.Tyr315Ter
ENST00000587376.5:c.140C>A
ENST00000587376.6:c.140C>A
ENST00000646507.1:n.1114C>A
ENST00000682414.1:c.1017C>A	ENSP00000507019.1:p.Tyr339Ter
ENST00000682508.1:n.1046C>A
ENST00000684218.1:c.*275C>A	ENSP00000507804.1:n.*275C>A
ENST00000684407.1:c.894C>A	ENSP00000507775.1:p.Tyr298Ter
ENST00000684458.1:c.1017C>A	ENSP00000508260.1:p.Tyr339Ter
XM_011526611.1:c.939C>A	XP_011524913.1:p.Tyr313Ter
XM_011526611.2:c.939C>A	XP_011524913.1:p.Tyr313Ter
XM_017026467.1:c.894C>A	XP_016881956.1:p.Tyr298Ter
XR_001753633.2:n.1064C>A
XR_001753634.2:n.1064C>A
XR_935763.1:n.1064C>A