Canonical Allele Identifier: CA2585785882

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45353236-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353238_45353239dup , CM000681.2:g.45353238_45353239dup	GRCh38
NC_000019.9:g.45856496_45856497dup , CM000681.1:g.45856496_45856497dup	GRCh37
NC_000019.8:g.50548336_50548337dup	NCBI36
NG_007067.2:g.22350_22351dup , LRG_461:g.22350_22351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1758+4_1758+5dup	ENSP00000375808.4:n.1758+4_1758+5dup
ENST00000682414.1:c.1758+4_1758+5dup	ENSP00000507019.1:n.1758+4_1758+5dup
ENST00000682508.1:n.1787+4_1787+5dup
ENST00000684218.1:c.*1016+4_*1016+5dup	ENSP00000507804.1:n.*1016+4_*1016+5dup
ENST00000684264.1:n.1314+4_1314+5dup
ENST00000684407.1:c.1635+4_1635+5dup	ENSP00000507775.1:n.1635+4_1635+5dup
ENST00000684458.1:c.*244+4_*244+5dup	ENSP00000508260.1:n.*244+4_*244+5dup
ENST00000684468.1:n.1470+4_1470+5dup
ENST00000391945.10:c.1758+4_1758+5dup MANE Select	ENSP00000375809.4:n.1758+4_1758+5dup
ENST00000587376.6:c.817+4_817+5dup
ENST00000646507.1:n.1855+4_1855+5dup
ENST00000391941.6:c.1686+4_1686+5dup	ENSP00000375805.2:n.1686+4_1686+5dup
ENST00000391942.6:n.929+4_929+5dup
ENST00000391944.7:c.1524+4_1524+5dup	ENSP00000375808.3:n.1524+4_1524+5dup
ENST00000391945.8:c.1758+4_1758+5dup	ENSP00000375809.3:n.1758+4_1758+5dup
ENST00000588652.5:n.1846+4_1846+5dup
NM_000400.3:c.1758+4_1758+5dup , LRG_461t1:c.1758+4_1758+5dup	NP_000391.1:n.1758+4_1758+5dup
XM_011526611.1:c.1680+4_1680+5dup	XP_011524913.1:n.1680+4_1680+5dup
XM_011526611.2:c.1680+4_1680+5dup	XP_011524913.1:n.1680+4_1680+5dup
XM_017026467.1:c.1635+4_1635+5dup	XP_016881956.1:n.1635+4_1635+5dup
XR_001753633.2:n.1805+4_1805+5dup
XR_001753634.2:n.1741+4_1741+5dup
NM_000400.4:c.1758+4_1758+5dup MANE Select	NP_000391.1:n.1758+4_1758+5dup