Canonical Allele Identifier: CA9512879

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2894087
• ClinVar RCV Id: RCV003725638
• dbSNP Id: rs758758729
• ExAC: 19:45855532 T / G
• gnomAD v2: 19-45855532-T-G
• gnomAD v3: 19-45352274-T-G
• gnomAD v4: 19-45352274-T-G
• MyVariant Identifiers: chr19:g.45855532T>G (hg19) ; chr19:g.45352274T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352274T>G , CM000681.2:g.45352274T>G	GRCh38
NC_000019.9:g.45855532T>G , CM000681.1:g.45855532T>G	GRCh37
NC_000019.8:g.50547372T>G	NCBI36
NG_007067.2:g.23314A>C , LRG_461:g.23314A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2125A>C	ENSP00000375808.4:p.Thr709Pro
ENST00000682414.1:c.2125A>C	ENSP00000507019.1:p.Thr709Pro
ENST00000682508.1:n.2154A>C
ENST00000684218.1:c.*1383A>C	ENSP00000507804.1:n.*1383A>C
ENST00000684264.1:n.1681A>C
ENST00000684407.1:c.2002A>C	ENSP00000507775.1:p.Thr668Pro
ENST00000684458.1:c.*611A>C	ENSP00000508260.1:n.*611A>C
ENST00000684468.1:n.1837A>C
ENST00000391945.10:c.2125A>C MANE Select	ENSP00000375809.4:p.Thr709Pro
ENST00000646507.1:n.2222A>C
ENST00000391941.6:c.2053A>C	ENSP00000375805.2:p.Thr685Pro
ENST00000391942.6:n.1296A>C
ENST00000391944.7:c.1891A>C	ENSP00000375808.3:p.Thr631Pro
ENST00000391945.8:c.2125A>C	ENSP00000375809.3:p.Thr709Pro
ENST00000588652.5:n.2213A>C
NM_000400.3:c.2125A>C , LRG_461t1:c.2125A>C	NP_000391.1:p.Thr709Pro
XM_011526611.1:c.2047A>C	XP_011524913.1:p.Thr683Pro
XM_011526611.2:c.2047A>C	XP_011524913.1:p.Thr683Pro
XM_017026467.1:c.2002A>C	XP_016881956.1:p.Thr668Pro
XR_001753633.2:n.2172A>C
XR_001753634.2:n.2108A>C
NM_000400.4:c.2125A>C MANE Select	NP_000391.1:p.Thr709Pro