Canonical Allele Identifier: CA996294689

Gene: ERCC2

Linked Data

• dbSNP Id: rs1599722961
• gnomAD v3: 19-45351996-A-C
• gnomAD v4: 19-45351996-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351996A>C , CM000681.2:g.45351996A>C	GRCh38
NC_000019.9:g.45855254A>C , CM000681.1:g.45855254A>C	GRCh37
NC_000019.8:g.50547094A>C	NCBI36
NG_007067.2:g.23592T>G , LRG_461:g.23592T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2403T>G	ENSP00000375808.4:p.Gly801=
ENST00000682414.1:c.2190+213T>G	ENSP00000507019.1:n.2190+213T>G
ENST00000682508.1:n.2219+213T>G
ENST00000684218.1:c.*1448+213T>G	ENSP00000507804.1:n.*1448+213T>G
ENST00000684264.1:n.1746+213T>G
ENST00000684407.1:c.2067+213T>G	ENSP00000507775.1:n.2067+213T>G
ENST00000684458.1:c.*676+213T>G	ENSP00000508260.1:n.*676+213T>G
ENST00000684468.1:n.1902+213T>G
ENST00000391945.10:c.2190+213T>G MANE Select	ENSP00000375809.4:n.2190+213T>G
ENST00000646507.1:n.2287+213T>G
ENST00000391942.6:n.1361+213T>G
ENST00000391944.7:c.1956+213T>G	ENSP00000375808.3:n.1956+213T>G
ENST00000391945.8:c.2190+213T>G	ENSP00000375809.3:n.2190+213T>G
ENST00000588652.5:n.2278+213T>G
NM_000400.3:c.2190+213T>G , LRG_461t1:c.2190+213T>G	NP_000391.1:n.2190+213T>G
XM_011526611.1:c.2112+213T>G	XP_011524913.1:n.2112+213T>G
XM_011526611.2:c.2112+213T>G	XP_011524913.1:n.2112+213T>G
XM_017026467.1:c.2067+213T>G	XP_016881956.1:n.2067+213T>G
XR_001753633.2:n.2237+213T>G
XR_001753634.2:n.2173+213T>G
NM_000400.4:c.2190+213T>G MANE Select	NP_000391.1:n.2190+213T>G