Canonical Allele Identifier: CA308948304

Gene: ERCC2

Linked Data

• dbSNP Id: rs555454332
• gnomAD v2: 19-45855360-GCAGGAGGA-G
• gnomAD v3: 19-45352102-GCAGGAGGA-G
• gnomAD v4: 19-45352102-GCAGGAGGA-G
• MyVariant Identifiers: chr19:g.45855361_45855368del (hg19) ; chr19:g.45352103_45352110del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352107_45352114del , CM000681.2:g.45352107_45352114del	GRCh38
NC_000019.9:g.45855365_45855372del , CM000681.1:g.45855365_45855372del	GRCh37
NC_000019.8:g.50547205_50547212del	NCBI36
NG_007067.2:g.23478_23485del , LRG_461:g.23478_23485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2289_2296del	ENSP00000375808.4:p.Pro765GlnfsTer?
ENST00000682414.1:c.2190+99_2190+106del	ENSP00000507019.1:n.2190+99_2190+106del
ENST00000682508.1:n.2219+99_2219+106del
ENST00000684218.1:c.*1448+99_*1448+106del	ENSP00000507804.1:n.*1448+99_*1448+106del
ENST00000684264.1:n.1746+99_1746+106del
ENST00000684407.1:c.2067+99_2067+106del	ENSP00000507775.1:n.2067+99_2067+106del
ENST00000684458.1:c.*676+99_*676+106del	ENSP00000508260.1:n.*676+99_*676+106del
ENST00000684468.1:n.1902+99_1902+106del
ENST00000391945.10:c.2190+99_2190+106del MANE Select	ENSP00000375809.4:n.2190+99_2190+106del
ENST00000646507.1:n.2287+99_2287+106del
ENST00000391942.6:n.1361+99_1361+106del
ENST00000391944.7:c.1956+99_1956+106del	ENSP00000375808.3:n.1956+99_1956+106del
ENST00000391945.8:c.2190+99_2190+106del	ENSP00000375809.3:n.2190+99_2190+106del
ENST00000588652.5:n.2278+99_2278+106del
NM_000400.3:c.2190+99_2190+106del , LRG_461t1:c.2190+99_2190+106del	NP_000391.1:n.2190+99_2190+106del
XM_011526611.1:c.2112+99_2112+106del	XP_011524913.1:n.2112+99_2112+106del
XM_011526611.2:c.2112+99_2112+106del	XP_011524913.1:n.2112+99_2112+106del
XM_017026467.1:c.2067+99_2067+106del	XP_016881956.1:n.2067+99_2067+106del
XR_001753633.2:n.2237+99_2237+106del
XR_001753634.2:n.2173+99_2173+106del
NM_000400.4:c.2190+99_2190+106del MANE Select	NP_000391.1:n.2190+99_2190+106del