Canonical Allele Identifier: CA2962742337

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352139_45352140del , CM000681.2:g.45352139_45352140del	GRCh38
NC_000019.9:g.45855397_45855398del , CM000681.1:g.45855397_45855398del	GRCh37
NC_000019.8:g.50547237_50547238del	NCBI36
NG_007067.2:g.23450_23451del , LRG_461:g.23450_23451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2261_2262del	ENSP00000375808.4:p.Leu754ProfsTer?
ENST00000682414.1:c.2190+71_2190+72del	ENSP00000507019.1:n.2190+71_2190+72del
ENST00000682508.1:n.2219+71_2219+72del
ENST00000684218.1:c.*1448+71_*1448+72del	ENSP00000507804.1:n.*1448+71_*1448+72del
ENST00000684264.1:n.1746+71_1746+72del
ENST00000684407.1:c.2067+71_2067+72del	ENSP00000507775.1:n.2067+71_2067+72del
ENST00000684458.1:c.*676+71_*676+72del	ENSP00000508260.1:n.*676+71_*676+72del
ENST00000684468.1:n.1902+71_1902+72del
ENST00000391945.10:c.2190+71_2190+72del MANE Select	ENSP00000375809.4:n.2190+71_2190+72del
ENST00000646507.1:n.2287+71_2287+72del
ENST00000391942.6:n.1361+71_1361+72del
ENST00000391944.7:c.1956+71_1956+72del	ENSP00000375808.3:n.1956+71_1956+72del
ENST00000391945.8:c.2190+71_2190+72del	ENSP00000375809.3:n.2190+71_2190+72del
ENST00000588652.5:n.2278+71_2278+72del
NM_000400.3:c.2190+71_2190+72del , LRG_461t1:c.2190+71_2190+72del	NP_000391.1:n.2190+71_2190+72del
XM_011526611.1:c.2112+71_2112+72del	XP_011524913.1:n.2112+71_2112+72del
XM_011526611.2:c.2112+71_2112+72del	XP_011524913.1:n.2112+71_2112+72del
XM_017026467.1:c.2067+71_2067+72del	XP_016881956.1:n.2067+71_2067+72del
XR_001753633.2:n.2237+71_2237+72del
XR_001753634.2:n.2173+71_2173+72del
NM_000400.4:c.2190+71_2190+72del MANE Select	NP_000391.1:n.2190+71_2190+72del