Canonical Allele Identifier: CA2585785665

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352890-CAGGATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352891_45352896del , CM000681.2:g.45352891_45352896del	GRCh38
NC_000019.9:g.45856149_45856154del , CM000681.1:g.45856149_45856154del	GRCh37
NC_000019.8:g.50547989_50547994del	NCBI36
NG_007067.2:g.22692_22697del , LRG_461:g.22692_22697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-80_1832-75del	ENSP00000375808.4:n.1832-80_1832-75del
ENST00000682414.1:c.1832-80_1832-75del	ENSP00000507019.1:n.1832-80_1832-75del
ENST00000682508.1:n.1861-80_1861-75del
ENST00000684218.1:c.*1090-80_*1090-75del	ENSP00000507804.1:n.*1090-80_*1090-75del
ENST00000684264.1:n.1388-80_1388-75del
ENST00000684407.1:c.1709-80_1709-75del	ENSP00000507775.1:n.1709-80_1709-75del
ENST00000684458.1:c.*318-80_*318-75del	ENSP00000508260.1:n.*318-80_*318-75del
ENST00000684468.1:n.1544-80_1544-75del
ENST00000391945.10:c.1832-80_1832-75del MANE Select	ENSP00000375809.4:n.1832-80_1832-75del
ENST00000646507.1:n.1929-80_1929-75del
ENST00000391941.6:c.1760-80_1760-75del	ENSP00000375805.2:n.1760-80_1760-75del
ENST00000391942.6:n.1003-80_1003-75del
ENST00000391944.7:c.1598-80_1598-75del	ENSP00000375808.3:n.1598-80_1598-75del
ENST00000391945.8:c.1832-80_1832-75del	ENSP00000375809.3:n.1832-80_1832-75del
ENST00000588652.5:n.1920-80_1920-75del
NM_000400.3:c.1832-80_1832-75del , LRG_461t1:c.1832-80_1832-75del	NP_000391.1:n.1832-80_1832-75del
XM_011526611.1:c.1754-80_1754-75del	XP_011524913.1:n.1754-80_1754-75del
XM_011526611.2:c.1754-80_1754-75del	XP_011524913.1:n.1754-80_1754-75del
XM_017026467.1:c.1709-80_1709-75del	XP_016881956.1:n.1709-80_1709-75del
XR_001753633.2:n.1879-80_1879-75del
XR_001753634.2:n.1815-80_1815-75del
NM_000400.4:c.1832-80_1832-75del MANE Select	NP_000391.1:n.1832-80_1832-75del