Canonical Allele Identifier: CA2585785729

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352947-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352950_45352951del , CM000681.2:g.45352950_45352951del	GRCh38
NC_000019.9:g.45856208_45856209del , CM000681.1:g.45856208_45856209del	GRCh37
NC_000019.8:g.50548048_50548049del	NCBI36
NG_007067.2:g.22639_22640del , LRG_461:g.22639_22640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-133_1832-132del	ENSP00000375808.4:n.1832-133_1832-132del
ENST00000682414.1:c.1832-133_1832-132del	ENSP00000507019.1:n.1832-133_1832-132del
ENST00000682508.1:n.1861-133_1861-132del
ENST00000684218.1:c.*1090-133_*1090-132del	ENSP00000507804.1:n.*1090-133_*1090-132del
ENST00000684264.1:n.1388-133_1388-132del
ENST00000684407.1:c.1709-133_1709-132del	ENSP00000507775.1:n.1709-133_1709-132del
ENST00000684458.1:c.*318-133_*318-132del	ENSP00000508260.1:n.*318-133_*318-132del
ENST00000684468.1:n.1544-133_1544-132del
ENST00000391945.10:c.1832-133_1832-132del MANE Select	ENSP00000375809.4:n.1832-133_1832-132del
ENST00000646507.1:n.1929-133_1929-132del
ENST00000391941.6:c.1760-133_1760-132del	ENSP00000375805.2:n.1760-133_1760-132del
ENST00000391942.6:n.1003-133_1003-132del
ENST00000391944.7:c.1598-133_1598-132del	ENSP00000375808.3:n.1598-133_1598-132del
ENST00000391945.8:c.1832-133_1832-132del	ENSP00000375809.3:n.1832-133_1832-132del
ENST00000588652.5:n.1920-133_1920-132del
NM_000400.3:c.1832-133_1832-132del , LRG_461t1:c.1832-133_1832-132del	NP_000391.1:n.1832-133_1832-132del
XM_011526611.1:c.1754-133_1754-132del	XP_011524913.1:n.1754-133_1754-132del
XM_011526611.2:c.1754-133_1754-132del	XP_011524913.1:n.1754-133_1754-132del
XM_017026467.1:c.1709-133_1709-132del	XP_016881956.1:n.1709-133_1709-132del
XR_001753633.2:n.1879-133_1879-132del
XR_001753634.2:n.1815-133_1815-132del
NM_000400.4:c.1832-133_1832-132del MANE Select	NP_000391.1:n.1832-133_1832-132del