Canonical Allele Identifier: CA996295498

Gene: ERCC2

Linked Data

• gnomAD v3: 19-45352773-GTA-G
• gnomAD v4: 19-45352773-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352774_45352775del , CM000681.2:g.45352774_45352775del	GRCh38
NC_000019.9:g.45856032_45856033del , CM000681.1:g.45856032_45856033del	GRCh37
NC_000019.8:g.50547872_50547873del	NCBI36
NG_007067.2:g.22813_22814del , LRG_461:g.22813_22814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1873_1874del	ENSP00000375808.4:p.Tyr625ArgfsTer23
ENST00000682414.1:c.1873_1874del	ENSP00000507019.1:p.Tyr625ArgfsTer23
ENST00000682508.1:n.1902_1903del
ENST00000684218.1:c.*1131_*1132del	ENSP00000507804.1:n.*1131_*1132del
ENST00000684264.1:n.1429_1430del
ENST00000684407.1:c.1750_1751del	ENSP00000507775.1:p.Tyr584ArgfsTer23
ENST00000684458.1:c.*359_*360del	ENSP00000508260.1:n.*359_*360del
ENST00000684468.1:n.1585_1586del
ENST00000391945.10:c.1873_1874del MANE Select	ENSP00000375809.4:p.Tyr625ArgfsTer23
ENST00000646507.1:n.1970_1971del
ENST00000391941.6:c.1801_1802del	ENSP00000375805.2:p.Tyr601ArgfsTer23
ENST00000391942.6:n.1044_1045del
ENST00000391944.7:c.1639_1640del	ENSP00000375808.3:p.Tyr547ArgfsTer23
ENST00000391945.8:c.1873_1874del	ENSP00000375809.3:p.Tyr625ArgfsTer23
ENST00000588652.5:n.1961_1962del
NM_000400.3:c.1873_1874del , LRG_461t1:c.1873_1874del	NP_000391.1:p.Tyr625ArgfsTer23
XM_011526611.1:c.1795_1796del	XP_011524913.1:p.Tyr599ArgfsTer23
XM_011526611.2:c.1795_1796del	XP_011524913.1:p.Tyr599ArgfsTer23
XM_017026467.1:c.1750_1751del	XP_016881956.1:p.Tyr584ArgfsTer23
XR_001753633.2:n.1920_1921del
XR_001753634.2:n.1856_1857del
NM_000400.4:c.1873_1874del MANE Select	NP_000391.1:p.Tyr625ArgfsTer23