Canonical Allele Identifier: CA2576816139

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352916_45352918del , CM000681.2:g.45352916_45352918del	GRCh38
NC_000019.9:g.45856174_45856176del , CM000681.1:g.45856174_45856176del	GRCh37
NC_000019.8:g.50548014_50548016del	NCBI36
NG_007067.2:g.22670_22672del , LRG_461:g.22670_22672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-102_1832-100del	ENSP00000375808.4:n.1832-102_1832-100del
ENST00000682414.1:c.1832-102_1832-100del	ENSP00000507019.1:n.1832-102_1832-100del
ENST00000682508.1:n.1861-102_1861-100del
ENST00000684218.1:c.*1090-102_*1090-100del	ENSP00000507804.1:n.*1090-102_*1090-100del
ENST00000684264.1:n.1388-102_1388-100del
ENST00000684407.1:c.1709-102_1709-100del	ENSP00000507775.1:n.1709-102_1709-100del
ENST00000684458.1:c.*318-102_*318-100del	ENSP00000508260.1:n.*318-102_*318-100del
ENST00000684468.1:n.1544-102_1544-100del
ENST00000391945.10:c.1832-102_1832-100del MANE Select	ENSP00000375809.4:n.1832-102_1832-100del
ENST00000646507.1:n.1929-102_1929-100del
ENST00000391941.6:c.1760-102_1760-100del	ENSP00000375805.2:n.1760-102_1760-100del
ENST00000391942.6:n.1003-102_1003-100del
ENST00000391944.7:c.1598-102_1598-100del	ENSP00000375808.3:n.1598-102_1598-100del
ENST00000391945.8:c.1832-102_1832-100del	ENSP00000375809.3:n.1832-102_1832-100del
ENST00000588652.5:n.1920-102_1920-100del
NM_000400.3:c.1832-102_1832-100del , LRG_461t1:c.1832-102_1832-100del	NP_000391.1:n.1832-102_1832-100del
XM_011526611.1:c.1754-102_1754-100del	XP_011524913.1:n.1754-102_1754-100del
XM_011526611.2:c.1754-102_1754-100del	XP_011524913.1:n.1754-102_1754-100del
XM_017026467.1:c.1709-102_1709-100del	XP_016881956.1:n.1709-102_1709-100del
XR_001753633.2:n.1879-102_1879-100del
XR_001753634.2:n.1815-102_1815-100del
NM_000400.4:c.1832-102_1832-100del MANE Select	NP_000391.1:n.1832-102_1832-100del