Canonical Allele Identifier: CA882714808

Gene: ERCC2

Linked Data

• dbSNP Id: rs1467340863
• MyVariant Identifiers: chr19:g.45855279_45855288del (hg19) ; chr19:g.45352021_45352030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352021_45352030del , CM000681.2:g.45352021_45352030del	GRCh38
NC_000019.9:g.45855279_45855288del , CM000681.1:g.45855279_45855288del	GRCh37
NC_000019.8:g.50547119_50547128del	NCBI36
NG_007067.2:g.23558_23567del , LRG_461:g.23558_23567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2369_2378del	ENSP00000375808.4:p.His790ArgfsTer?
ENST00000682414.1:c.2190+179_2190+188del	ENSP00000507019.1:n.2190+179_2190+188del
ENST00000682508.1:n.2219+179_2219+188del
ENST00000684218.1:c.*1448+179_*1448+188del	ENSP00000507804.1:n.*1448+179_*1448+188del
ENST00000684264.1:n.1746+179_1746+188del
ENST00000684407.1:c.2067+179_2067+188del	ENSP00000507775.1:n.2067+179_2067+188del
ENST00000684458.1:c.*676+179_*676+188del	ENSP00000508260.1:n.*676+179_*676+188del
ENST00000684468.1:n.1902+179_1902+188del
ENST00000391945.10:c.2190+179_2190+188del MANE Select	ENSP00000375809.4:n.2190+179_2190+188del
ENST00000646507.1:n.2287+179_2287+188del
ENST00000391942.6:n.1361+179_1361+188del
ENST00000391944.7:c.1956+179_1956+188del	ENSP00000375808.3:n.1956+179_1956+188del
ENST00000391945.8:c.2190+179_2190+188del	ENSP00000375809.3:n.2190+179_2190+188del
ENST00000588652.5:n.2278+179_2278+188del
NM_000400.3:c.2190+179_2190+188del , LRG_461t1:c.2190+179_2190+188del	NP_000391.1:n.2190+179_2190+188del
XM_011526611.1:c.2112+179_2112+188del	XP_011524913.1:n.2112+179_2112+188del
XM_011526611.2:c.2112+179_2112+188del	XP_011524913.1:n.2112+179_2112+188del
XM_017026467.1:c.2067+179_2067+188del	XP_016881956.1:n.2067+179_2067+188del
XR_001753633.2:n.2237+179_2237+188del
XR_001753634.2:n.2173+179_2173+188del
NM_000400.4:c.2190+179_2190+188del MANE Select	NP_000391.1:n.2190+179_2190+188del