Canonical Allele Identifier: CA2338389061

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352821_45352826delinsTGGGCA , CM000681.2:g.45352821_45352826delinsTGGGCA	GRCh38
NC_000019.9:g.45856079_45856084delinsTGGGCA , CM000681.1:g.45856079_45856084delinsTGGGCA	GRCh37
NC_000019.8:g.50547919_50547924delinsTGGGCA	NCBI36
NG_007067.2:g.22762_22767delinsTGCCCA , LRG_461:g.22762_22767delinsTGCCCA

Transcript Alleles

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