Canonical Allele Identifier: CA996294809

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971818532
• gnomAD v3: 19-45352097-T-G
• gnomAD v4: 19-45352097-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352097T>G , CM000681.2:g.45352097T>G	GRCh38
NC_000019.9:g.45855355T>G , CM000681.1:g.45855355T>G	GRCh37
NC_000019.8:g.50547195T>G	NCBI36
NG_007067.2:g.23491A>C , LRG_461:g.23491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2302A>C	ENSP00000375808.4:p.Ser768Arg
ENST00000682414.1:c.2190+112A>C	ENSP00000507019.1:n.2190+112A>C
ENST00000682508.1:n.2219+112A>C
ENST00000684218.1:c.*1448+112A>C	ENSP00000507804.1:n.*1448+112A>C
ENST00000684264.1:n.1746+112A>C
ENST00000684407.1:c.2067+112A>C	ENSP00000507775.1:n.2067+112A>C
ENST00000684458.1:c.*676+112A>C	ENSP00000508260.1:n.*676+112A>C
ENST00000684468.1:n.1902+112A>C
ENST00000391945.10:c.2190+112A>C MANE Select	ENSP00000375809.4:n.2190+112A>C
ENST00000646507.1:n.2287+112A>C
ENST00000391942.6:n.1361+112A>C
ENST00000391944.7:c.1956+112A>C	ENSP00000375808.3:n.1956+112A>C
ENST00000391945.8:c.2190+112A>C	ENSP00000375809.3:n.2190+112A>C
ENST00000588652.5:n.2278+112A>C
NM_000400.3:c.2190+112A>C , LRG_461t1:c.2190+112A>C	NP_000391.1:n.2190+112A>C
XM_011526611.1:c.2112+112A>C	XP_011524913.1:n.2112+112A>C
XM_011526611.2:c.2112+112A>C	XP_011524913.1:n.2112+112A>C
XM_017026467.1:c.2067+112A>C	XP_016881956.1:n.2067+112A>C
XR_001753633.2:n.2237+112A>C
XR_001753634.2:n.2173+112A>C
NM_000400.4:c.2190+112A>C MANE Select	NP_000391.1:n.2190+112A>C