Canonical Allele Identifier: CA882714778

Gene: ERCC2

Linked Data

• dbSNP Id: rs1478850338
• gnomAD v3: 19-45351977-CCT-C
• gnomAD v4: 19-45351977-CCT-C
• MyVariant Identifiers: chr19:g.45855236_45855237del (hg19) ; chr19:g.45351978_45351979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351979_45351980del , CM000681.2:g.45351979_45351980del	GRCh38
NC_000019.9:g.45855237_45855238del , CM000681.1:g.45855237_45855238del	GRCh37
NC_000019.8:g.50547077_50547078del	NCBI36
NG_007067.2:g.23609_23610del , LRG_461:g.23609_23610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2420_2421del	ENSP00000375808.4:p.Glu807GlyfsTer?
ENST00000682414.1:c.2190+230_2190+231del	ENSP00000507019.1:n.2190+230_2190+231del
ENST00000682508.1:n.2219+230_2219+231del
ENST00000684218.1:c.*1448+230_*1448+231del	ENSP00000507804.1:n.*1448+230_*1448+231del
ENST00000684264.1:n.1746+230_1746+231del
ENST00000684407.1:c.2067+230_2067+231del	ENSP00000507775.1:n.2067+230_2067+231del
ENST00000684458.1:c.*676+230_*676+231del	ENSP00000508260.1:n.*676+230_*676+231del
ENST00000684468.1:n.1902+230_1902+231del
ENST00000391945.10:c.2190+230_2190+231del MANE Select	ENSP00000375809.4:n.2190+230_2190+231del
ENST00000646507.1:n.2287+230_2287+231del
ENST00000391942.6:n.1361+230_1361+231del
ENST00000391944.7:c.1956+230_1956+231del	ENSP00000375808.3:n.1956+230_1956+231del
ENST00000391945.8:c.2190+230_2190+231del	ENSP00000375809.3:n.2190+230_2190+231del
ENST00000588652.5:n.2278+230_2278+231del
NM_000400.3:c.2190+230_2190+231del , LRG_461t1:c.2190+230_2190+231del	NP_000391.1:n.2190+230_2190+231del
XM_011526611.1:c.2112+230_2112+231del	XP_011524913.1:n.2112+230_2112+231del
XM_011526611.2:c.2112+230_2112+231del	XP_011524913.1:n.2112+230_2112+231del
XM_017026467.1:c.2067+230_2067+231del	XP_016881956.1:n.2067+230_2067+231del
XR_001753633.2:n.2237+230_2237+231del
XR_001753634.2:n.2173+230_2173+231del
NM_000400.4:c.2190+230_2190+231del MANE Select	NP_000391.1:n.2190+230_2190+231del