Canonical Allele Identifier: CA2338395773

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2829214
• ClinVar RCV Id: RCV003686230
• dbSNP Id: rs1972334735

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364136T>C , CM000681.2:g.45364136T>C	GRCh38
NC_000019.9:g.45867394T>C , CM000681.1:g.45867394T>C	GRCh37
NC_000019.8:g.50559234T>C	NCBI36
NG_007067.2:g.11452A>G , LRG_461:g.11452A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.816-17A>G	ENSP00000375808.4:n.816-17A>G
ENST00000682414.1:c.816-17A>G	ENSP00000507019.1:n.816-17A>G
ENST00000682508.1:n.845-17A>G
ENST00000684218.1:c.*74-17A>G	ENSP00000507804.1:n.*74-17A>G
ENST00000684407.1:c.693-17A>G	ENSP00000507775.1:n.693-17A>G
ENST00000684458.1:c.816-17A>G	ENSP00000508260.1:n.816-17A>G
ENST00000391945.10:c.816-17A>G MANE Select	ENSP00000375809.4:n.816-17A>G
ENST00000586131.6:c.744-17A>G	ENSP00000464887.1:n.744-17A>G
ENST00000646507.1:n.913-17A>G
ENST00000391941.6:c.744-17A>G	ENSP00000375805.2:n.744-17A>G
ENST00000391944.7:c.582-17A>G	ENSP00000375808.3:n.582-17A>G
ENST00000391945.8:c.816-17A>G	ENSP00000375809.3:n.816-17A>G
ENST00000485403.6:c.744-17A>G	ENSP00000431229.2:n.744-17A>G
ENST00000586131.5:c.744-17A>G	ENSP00000464887.1:n.744-17A>G
ENST00000586737.5:n.453-17A>G
ENST00000591309.5:c.*74-17A>G	ENSP00000465207.1:n.*74-17A>G
NM_000400.3:c.816-17A>G , LRG_461t1:c.816-17A>G	NP_000391.1:n.816-17A>G
NM_001130867.1:c.744-17A>G	NP_001124339.1:n.744-17A>G
XM_011526611.1:c.738-17A>G	XP_011524913.1:n.738-17A>G
XR_935763.1:n.863-17A>G
XM_011526611.2:c.738-17A>G	XP_011524913.1:n.738-17A>G
XM_017026467.1:c.693-17A>G	XP_016881956.1:n.693-17A>G
XR_001753633.2:n.863-17A>G
XR_001753634.2:n.863-17A>G
NM_000400.4:c.816-17A>G MANE Select	NP_000391.1:n.816-17A>G
NM_001130867.2:c.744-17A>G	NP_001124339.1:n.744-17A>G