Canonical Allele Identifier: CA2814540127

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352873_45352878dup , CM000681.2:g.45352873_45352878dup	GRCh38
NC_000019.9:g.45856131_45856136dup , CM000681.1:g.45856131_45856136dup	GRCh37
NC_000019.8:g.50547971_50547976dup	NCBI36
NG_007067.2:g.22710_22715dup , LRG_461:g.22710_22715dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-62_1832-57dup	ENSP00000375808.4:n.1832-62_1832-57dup
ENST00000682414.1:c.1832-62_1832-57dup	ENSP00000507019.1:n.1832-62_1832-57dup
ENST00000682508.1:n.1861-62_1861-57dup
ENST00000684218.1:c.*1090-62_*1090-57dup	ENSP00000507804.1:n.*1090-62_*1090-57dup
ENST00000684264.1:n.1388-62_1388-57dup
ENST00000684407.1:c.1709-62_1709-57dup	ENSP00000507775.1:n.1709-62_1709-57dup
ENST00000684458.1:c.*318-62_*318-57dup	ENSP00000508260.1:n.*318-62_*318-57dup
ENST00000684468.1:n.1544-62_1544-57dup
ENST00000391945.10:c.1832-62_1832-57dup MANE Select	ENSP00000375809.4:n.1832-62_1832-57dup
ENST00000646507.1:n.1929-62_1929-57dup
ENST00000391941.6:c.1760-62_1760-57dup	ENSP00000375805.2:n.1760-62_1760-57dup
ENST00000391942.6:n.1003-62_1003-57dup
ENST00000391944.7:c.1598-62_1598-57dup	ENSP00000375808.3:n.1598-62_1598-57dup
ENST00000391945.8:c.1832-62_1832-57dup	ENSP00000375809.3:n.1832-62_1832-57dup
ENST00000588652.5:n.1920-62_1920-57dup
NM_000400.3:c.1832-62_1832-57dup , LRG_461t1:c.1832-62_1832-57dup	NP_000391.1:n.1832-62_1832-57dup
XM_011526611.1:c.1754-62_1754-57dup	XP_011524913.1:n.1754-62_1754-57dup
XM_011526611.2:c.1754-62_1754-57dup	XP_011524913.1:n.1754-62_1754-57dup
XM_017026467.1:c.1709-62_1709-57dup	XP_016881956.1:n.1709-62_1709-57dup
XR_001753633.2:n.1879-62_1879-57dup
XR_001753634.2:n.1815-62_1815-57dup
NM_000400.4:c.1832-62_1832-57dup MANE Select	NP_000391.1:n.1832-62_1832-57dup