Canonical Allele Identifier: CA2338389069

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352826_45352829delinsAGAG , CM000681.2:g.45352826_45352829delinsAGAG	GRCh38
NC_000019.9:g.45856084_45856087delinsAGAG , CM000681.1:g.45856084_45856087delinsAGAG	GRCh37
NC_000019.8:g.50547924_50547927delinsAGAG	NCBI36
NG_007067.2:g.22759_22762delinsCTCT , LRG_461:g.22759_22762delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-13_1832-10delinsCTCT	ENSP00000375808.4:n.1832-13_1832-10delinsCTCT
ENST00000682414.1:c.1832-13_1832-10delinsCTCT	ENSP00000507019.1:n.1832-13_1832-10delinsCTCT
ENST00000682508.1:n.1861-13_1861-10delinsCTCT
ENST00000684218.1:c.*1090-13_*1090-10delinsCTCT	ENSP00000507804.1:n.*1090-13_*1090-10delinsCTCT
ENST00000684264.1:n.1388-13_1388-10delinsCTCT
ENST00000684407.1:c.1709-13_1709-10delinsCTCT	ENSP00000507775.1:n.1709-13_1709-10delinsCTCT
ENST00000684458.1:c.*318-13_*318-10delinsCTCT	ENSP00000508260.1:n.*318-13_*318-10delinsCTCT
ENST00000684468.1:n.1544-13_1544-10delinsCTCT
ENST00000391945.10:c.1832-13_1832-10delinsCTCT MANE Select	ENSP00000375809.4:n.1832-13_1832-10delinsCTCT
ENST00000646507.1:n.1929-13_1929-10delinsCTCT
ENST00000391941.6:c.1760-13_1760-10delinsCTCT	ENSP00000375805.2:n.1760-13_1760-10delinsCTCT
ENST00000391942.6:n.1003-13_1003-10delinsCTCT
ENST00000391944.7:c.1598-13_1598-10delinsCTCT	ENSP00000375808.3:n.1598-13_1598-10delinsCTCT
ENST00000391945.8:c.1832-13_1832-10delinsCTCT	ENSP00000375809.3:n.1832-13_1832-10delinsCTCT
ENST00000588652.5:n.1920-13_1920-10delinsCTCT
NM_000400.3:c.1832-13_1832-10delinsCTCT , LRG_461t1:c.1832-13_1832-10delinsCTCT	NP_000391.1:n.1832-13_1832-10delinsCTCT
XM_011526611.1:c.1754-13_1754-10delinsCTCT	XP_011524913.1:n.1754-13_1754-10delinsCTCT
XM_011526611.2:c.1754-13_1754-10delinsCTCT	XP_011524913.1:n.1754-13_1754-10delinsCTCT
XM_017026467.1:c.1709-13_1709-10delinsCTCT	XP_016881956.1:n.1709-13_1709-10delinsCTCT
XR_001753633.2:n.1879-13_1879-10delinsCTCT
XR_001753634.2:n.1815-13_1815-10delinsCTCT
NM_000400.4:c.1832-13_1832-10delinsCTCT MANE Select	NP_000391.1:n.1832-13_1832-10delinsCTCT