Canonical Allele Identifier: CA996294940

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971822860
• gnomAD v3: 19-45352150-G-GACTT
• gnomAD v4: 19-45352150-G-GACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352151_45352154dup , CM000681.2:g.45352151_45352154dup	GRCh38
NC_000019.9:g.45855409_45855412dup , CM000681.1:g.45855409_45855412dup	GRCh37
NC_000019.8:g.50547249_50547252dup	NCBI36
NG_007067.2:g.23434_23437dup , LRG_461:g.23434_23437dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2245_2248dup	ENSP00000375808.4:p.Ser750Ter
ENST00000682414.1:c.2190+55_2190+58dup	ENSP00000507019.1:n.2190+55_2190+58dup
ENST00000682508.1:n.2219+55_2219+58dup
ENST00000684218.1:c.*1448+55_*1448+58dup	ENSP00000507804.1:n.*1448+55_*1448+58dup
ENST00000684264.1:n.1746+55_1746+58dup
ENST00000684407.1:c.2067+55_2067+58dup	ENSP00000507775.1:n.2067+55_2067+58dup
ENST00000684458.1:c.*676+55_*676+58dup	ENSP00000508260.1:n.*676+55_*676+58dup
ENST00000684468.1:n.1902+55_1902+58dup
ENST00000391945.10:c.2190+55_2190+58dup MANE Select	ENSP00000375809.4:n.2190+55_2190+58dup
ENST00000646507.1:n.2287+55_2287+58dup
ENST00000391942.6:n.1361+55_1361+58dup
ENST00000391944.7:c.1956+55_1956+58dup	ENSP00000375808.3:n.1956+55_1956+58dup
ENST00000391945.8:c.2190+55_2190+58dup	ENSP00000375809.3:n.2190+55_2190+58dup
ENST00000588652.5:n.2278+55_2278+58dup
NM_000400.3:c.2190+55_2190+58dup , LRG_461t1:c.2190+55_2190+58dup	NP_000391.1:n.2190+55_2190+58dup
XM_011526611.1:c.2112+55_2112+58dup	XP_011524913.1:n.2112+55_2112+58dup
XM_011526611.2:c.2112+55_2112+58dup	XP_011524913.1:n.2112+55_2112+58dup
XM_017026467.1:c.2067+55_2067+58dup	XP_016881956.1:n.2067+55_2067+58dup
XR_001753633.2:n.2237+55_2237+58dup
XR_001753634.2:n.2173+55_2173+58dup
NM_000400.4:c.2190+55_2190+58dup MANE Select	NP_000391.1:n.2190+55_2190+58dup