Canonical Allele Identifier: CA633480489

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353250_45353252dup , CM000681.2:g.45353250_45353252dup	GRCh38
NC_000019.9:g.45856508_45856510dup , CM000681.1:g.45856508_45856510dup	GRCh37
NC_000019.8:g.50548348_50548350dup	NCBI36
NG_007067.2:g.22337_22339dup , LRG_461:g.22337_22339dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1749_1751dup MANE Select	NP_000391.1:p.Tyr584Ter
ENST00000391945.10:c.1749_1751dup MANE Select	ENSP00000375809.4:p.Tyr584Ter
NM_000400.3:c.1749_1751dup , LRG_461t1:c.1749_1751dup	NP_000391.1:p.Tyr584Ter
ENST00000391941.6:c.1677_1679dup	ENSP00000375805.2:p.Tyr560Ter
ENST00000391942.6:n.920_922dup
ENST00000391944.7:c.1515_1517dup	ENSP00000375808.3:p.Tyr506Ter
ENST00000391944.8:c.1749_1751dup	ENSP00000375808.4:p.Tyr584Ter
ENST00000391945.8:c.1749_1751dup	ENSP00000375809.3:p.Tyr584Ter
ENST00000587376.5:c.808_810dup
ENST00000587376.6:c.808_810dup
ENST00000588652.5:n.1837_1839dup
ENST00000646507.1:n.1846_1848dup
ENST00000682414.1:c.1749_1751dup	ENSP00000507019.1:p.Tyr584Ter
ENST00000682508.1:n.1778_1780dup
ENST00000684218.1:c.*1007_*1009dup	ENSP00000507804.1:n.*1007_*1009dup
ENST00000684264.1:n.1305_1307dup
ENST00000684407.1:c.1626_1628dup	ENSP00000507775.1:p.Tyr543Ter
ENST00000684458.1:c.*235_*237dup	ENSP00000508260.1:n.*235_*237dup
ENST00000684468.1:n.1461_1463dup
XM_011526611.1:c.1671_1673dup	XP_011524913.1:p.Tyr558Ter
XM_011526611.2:c.1671_1673dup	XP_011524913.1:p.Tyr558Ter
XM_017026467.1:c.1626_1628dup	XP_016881956.1:p.Tyr543Ter
XR_001753633.2:n.1796_1798dup
XR_001753634.2:n.1732_1734dup
XR_935763.1:n.1732_1734dup