Canonical Allele Identifier: CA507818749

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2702148
• ClinVar RCV Id: RCV003577228
• gnomAD v4: 19-45352764-T-C
• MyVariant Identifiers: chr19:g.45856022T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352764T>C , CM000681.2:g.45352764T>C	GRCh38
NC_000019.9:g.45856022T>C , CM000681.1:g.45856022T>C	GRCh37
NC_000019.8:g.50547862T>C	NCBI36
NG_007067.2:g.22824A>G , LRG_461:g.22824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1884A>G	ENSP00000375808.4:p.Thr628=
ENST00000682414.1:c.1884A>G	ENSP00000507019.1:p.Thr628=
ENST00000682508.1:n.1913A>G
ENST00000684218.1:c.*1142A>G	ENSP00000507804.1:n.*1142A>G
ENST00000684264.1:n.1440A>G
ENST00000684407.1:c.1761A>G	ENSP00000507775.1:p.Thr587=
ENST00000684458.1:c.*370A>G	ENSP00000508260.1:n.*370A>G
ENST00000684468.1:n.1596A>G
ENST00000391945.10:c.1884A>G MANE Select	ENSP00000375809.4:p.Thr628=
ENST00000646507.1:n.1981A>G
ENST00000391941.6:c.1812A>G	ENSP00000375805.2:p.Thr604=
ENST00000391942.6:n.1055A>G
ENST00000391944.7:c.1650A>G	ENSP00000375808.3:p.Thr550=
ENST00000391945.8:c.1884A>G	ENSP00000375809.3:p.Thr628=
ENST00000588652.5:n.1972A>G
NM_000400.3:c.1884A>G , LRG_461t1:c.1884A>G	NP_000391.1:p.Thr628=
XM_011526611.1:c.1806A>G	XP_011524913.1:p.Thr602=
XM_011526611.2:c.1806A>G	XP_011524913.1:p.Thr602=
XM_017026467.1:c.1761A>G	XP_016881956.1:p.Thr587=
XR_001753633.2:n.1931A>G
XR_001753634.2:n.1867A>G
NM_000400.4:c.1884A>G MANE Select	NP_000391.1:p.Thr628=