Canonical Allele Identifier: CA882711086

Gene: ERCC2

Linked Data

• dbSNP Id: rs238405
• gnomAD v4: 19-45364748-A-G
• MyVariant Identifiers: chr19:g.45868006A>G (hg19) ; chr19:g.45364748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364748A>G , CM000681.2:g.45364748A>G	GRCh38
NC_000019.9:g.45868006A>G , CM000681.1:g.45868006A>G	GRCh37
NC_000019.8:g.50559846A>G	NCBI36
NG_007067.2:g.10840T>C , LRG_461:g.10840T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.594+90T>C	ENSP00000375808.4:n.594+90T>C
ENST00000682414.1:c.594+90T>C	ENSP00000507019.1:n.594+90T>C
ENST00000682508.1:n.623+90T>C
ENST00000684218.1:c.594+90T>C	ENSP00000507804.1:n.594+90T>C
ENST00000684407.1:c.471+90T>C	ENSP00000507775.1:n.471+90T>C
ENST00000684458.1:c.594+90T>C	ENSP00000508260.1:n.594+90T>C
ENST00000391945.10:c.594+90T>C MANE Select	ENSP00000375809.4:n.594+90T>C
ENST00000586131.6:c.522+90T>C	ENSP00000464887.1:n.522+90T>C
ENST00000646507.1:n.691+90T>C
ENST00000391941.6:c.522+90T>C	ENSP00000375805.2:n.522+90T>C
ENST00000391944.7:c.361-201T>C	ENSP00000375808.3:n.361-201T>C
ENST00000391945.8:c.594+90T>C	ENSP00000375809.3:n.594+90T>C
ENST00000485403.6:c.522+90T>C	ENSP00000431229.2:n.522+90T>C
ENST00000586131.5:c.522+90T>C	ENSP00000464887.1:n.522+90T>C
ENST00000586441.1:n.586+90T>C
ENST00000586737.5:n.356-417T>C
ENST00000591309.5:c.361-417T>C	ENSP00000465207.1:n.361-417T>C
NM_000400.3:c.594+90T>C , LRG_461t1:c.594+90T>C	NP_000391.1:n.594+90T>C
NM_001130867.1:c.522+90T>C	NP_001124339.1:n.522+90T>C
XM_011526611.1:c.516+90T>C	XP_011524913.1:n.516+90T>C
XR_935763.1:n.641+90T>C
XM_011526611.2:c.516+90T>C	XP_011524913.1:n.516+90T>C
XM_017026467.1:c.471+90T>C	XP_016881956.1:n.471+90T>C
XR_001753633.2:n.641+90T>C
XR_001753634.2:n.641+90T>C
NM_000400.4:c.594+90T>C MANE Select	NP_000391.1:n.594+90T>C
NM_001130867.2:c.522+90T>C	NP_001124339.1:n.522+90T>C