Canonical Allele Identifier: CA2962742338

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352136_45352137insT , CM000681.2:g.45352136_45352137insT	GRCh38
NC_000019.9:g.45855394_45855395insT , CM000681.1:g.45855394_45855395insT	GRCh37
NC_000019.8:g.50547234_50547235insT	NCBI36
NG_007067.2:g.23451_23452insA , LRG_461:g.23451_23452insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2262_2263insA	ENSP00000375808.4:p.Pro755ThrfsTer?
ENST00000682414.1:c.2190+72_2190+73insA	ENSP00000507019.1:n.2190+72_2190+73insA
ENST00000682508.1:n.2219+72_2219+73insA
ENST00000684218.1:c.*1448+72_*1448+73insA	ENSP00000507804.1:n.*1448+72_*1448+73insA
ENST00000684264.1:n.1746+72_1746+73insA
ENST00000684407.1:c.2067+72_2067+73insA	ENSP00000507775.1:n.2067+72_2067+73insA
ENST00000684458.1:c.*676+72_*676+73insA	ENSP00000508260.1:n.*676+72_*676+73insA
ENST00000684468.1:n.1902+72_1902+73insA
ENST00000391945.10:c.2190+72_2190+73insA MANE Select	ENSP00000375809.4:n.2190+72_2190+73insA
ENST00000646507.1:n.2287+72_2287+73insA
ENST00000391942.6:n.1361+72_1361+73insA
ENST00000391944.7:c.1956+72_1956+73insA	ENSP00000375808.3:n.1956+72_1956+73insA
ENST00000391945.8:c.2190+72_2190+73insA	ENSP00000375809.3:n.2190+72_2190+73insA
ENST00000588652.5:n.2278+72_2278+73insA
NM_000400.3:c.2190+72_2190+73insA , LRG_461t1:c.2190+72_2190+73insA	NP_000391.1:n.2190+72_2190+73insA
XM_011526611.1:c.2112+72_2112+73insA	XP_011524913.1:n.2112+72_2112+73insA
XM_011526611.2:c.2112+72_2112+73insA	XP_011524913.1:n.2112+72_2112+73insA
XM_017026467.1:c.2067+72_2067+73insA	XP_016881956.1:n.2067+72_2067+73insA
XR_001753633.2:n.2237+72_2237+73insA
XR_001753634.2:n.2173+72_2173+73insA
NM_000400.4:c.2190+72_2190+73insA MANE Select	NP_000391.1:n.2190+72_2190+73insA