Canonical Allele Identifier: CA2338388617

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971822335

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352144_45352153del , CM000681.2:g.45352144_45352153del	GRCh38
NC_000019.9:g.45855402_45855411del , CM000681.1:g.45855402_45855411del	GRCh37
NC_000019.8:g.50547242_50547251del	NCBI36
NG_007067.2:g.23435_23444del , LRG_461:g.23435_23444del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2246_2255del	ENSP00000375808.4:p.Lys749ArgfsTer?
ENST00000682414.1:c.2190+56_2190+65del	ENSP00000507019.1:n.2190+56_2190+65del
ENST00000682508.1:n.2219+56_2219+65del
ENST00000684218.1:c.*1448+56_*1448+65del	ENSP00000507804.1:n.*1448+56_*1448+65del
ENST00000684264.1:n.1746+56_1746+65del
ENST00000684407.1:c.2067+56_2067+65del	ENSP00000507775.1:n.2067+56_2067+65del
ENST00000684458.1:c.*676+56_*676+65del	ENSP00000508260.1:n.*676+56_*676+65del
ENST00000684468.1:n.1902+56_1902+65del
ENST00000391945.10:c.2190+56_2190+65del MANE Select	ENSP00000375809.4:n.2190+56_2190+65del
ENST00000646507.1:n.2287+56_2287+65del
ENST00000391942.6:n.1361+56_1361+65del
ENST00000391944.7:c.1956+56_1956+65del	ENSP00000375808.3:n.1956+56_1956+65del
ENST00000391945.8:c.2190+56_2190+65del	ENSP00000375809.3:n.2190+56_2190+65del
ENST00000588652.5:n.2278+56_2278+65del
NM_000400.3:c.2190+56_2190+65del , LRG_461t1:c.2190+56_2190+65del	NP_000391.1:n.2190+56_2190+65del
XM_011526611.1:c.2112+56_2112+65del	XP_011524913.1:n.2112+56_2112+65del
XM_011526611.2:c.2112+56_2112+65del	XP_011524913.1:n.2112+56_2112+65del
XM_017026467.1:c.2067+56_2067+65del	XP_016881956.1:n.2067+56_2067+65del
XR_001753633.2:n.2237+56_2237+65del
XR_001753634.2:n.2173+56_2173+65del
NM_000400.4:c.2190+56_2190+65del MANE Select	NP_000391.1:n.2190+56_2190+65del