Canonical Allele Identifier: CA2580097402

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2096946
• ClinVar RCV Id: RCV003028342

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352371G>C , CM000681.2:g.45352371G>C	GRCh38
NC_000019.9:g.45855629G>C , CM000681.1:g.45855629G>C	GRCh37
NC_000019.8:g.50547469G>C	NCBI36
NG_007067.2:g.23217C>G , LRG_461:g.23217C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-19C>G	ENSP00000375808.4:n.2047-19C>G
ENST00000682414.1:c.2047-19C>G	ENSP00000507019.1:n.2047-19C>G
ENST00000682508.1:n.2076-19C>G
ENST00000684218.1:c.*1305-19C>G	ENSP00000507804.1:n.*1305-19C>G
ENST00000684264.1:n.1603-19C>G
ENST00000684407.1:c.1924-19C>G	ENSP00000507775.1:n.1924-19C>G
ENST00000684458.1:c.*533-19C>G	ENSP00000508260.1:n.*533-19C>G
ENST00000684468.1:n.1759-19C>G
ENST00000391945.10:c.2047-19C>G MANE Select	ENSP00000375809.4:n.2047-19C>G
ENST00000646507.1:n.2144-19C>G
ENST00000391941.6:c.1975-19C>G	ENSP00000375805.2:n.1975-19C>G
ENST00000391942.6:n.1218-19C>G
ENST00000391944.7:c.1813-19C>G	ENSP00000375808.3:n.1813-19C>G
ENST00000391945.8:c.2047-19C>G	ENSP00000375809.3:n.2047-19C>G
ENST00000588652.5:n.2135-19C>G
NM_000400.3:c.2047-19C>G , LRG_461t1:c.2047-19C>G	NP_000391.1:n.2047-19C>G
XM_011526611.1:c.1969-19C>G	XP_011524913.1:n.1969-19C>G
XM_011526611.2:c.1969-19C>G	XP_011524913.1:n.1969-19C>G
XM_017026467.1:c.1924-19C>G	XP_016881956.1:n.1924-19C>G
XR_001753633.2:n.2094-19C>G
XR_001753634.2:n.2030-19C>G
NM_000400.4:c.2047-19C>G MANE Select	NP_000391.1:n.2047-19C>G