Canonical Allele Identifier: CA882714820

Gene: ERCC2

Linked Data

• dbSNP Id: rs1475064191
• gnomAD v3: 19-45352030-T-TG
• gnomAD v4: 19-45352030-T-TG
• MyVariant Identifiers: chr19:g.45855288_45855289insG (hg19) ; chr19:g.45352030_45352031insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352032dup , CM000681.2:g.45352032dup	GRCh38
NC_000019.9:g.45855290dup , CM000681.1:g.45855290dup	GRCh37
NC_000019.8:g.50547130dup	NCBI36
NG_007067.2:g.23557dup , LRG_461:g.23557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2368dup	ENSP00000375808.4:p.His790ProfsTer13
ENST00000682414.1:c.2190+178dup	ENSP00000507019.1:n.2190+178dup
ENST00000682508.1:n.2219+178dup
ENST00000684218.1:c.*1448+178dup	ENSP00000507804.1:n.*1448+178dup
ENST00000684264.1:n.1746+178dup
ENST00000684407.1:c.2067+178dup	ENSP00000507775.1:n.2067+178dup
ENST00000684458.1:c.*676+178dup	ENSP00000508260.1:n.*676+178dup
ENST00000684468.1:n.1902+178dup
ENST00000391945.10:c.2190+178dup MANE Select	ENSP00000375809.4:n.2190+178dup
ENST00000646507.1:n.2287+178dup
ENST00000391942.6:n.1361+178dup
ENST00000391944.7:c.1956+178dup	ENSP00000375808.3:n.1956+178dup
ENST00000391945.8:c.2190+178dup	ENSP00000375809.3:n.2190+178dup
ENST00000588652.5:n.2278+178dup
NM_000400.3:c.2190+178dup , LRG_461t1:c.2190+178dup	NP_000391.1:n.2190+178dup
XM_011526611.1:c.2112+178dup	XP_011524913.1:n.2112+178dup
XM_011526611.2:c.2112+178dup	XP_011524913.1:n.2112+178dup
XM_017026467.1:c.2067+178dup	XP_016881956.1:n.2067+178dup
XR_001753633.2:n.2237+178dup
XR_001753634.2:n.2173+178dup
NM_000400.4:c.2190+178dup MANE Select	NP_000391.1:n.2190+178dup