Canonical Allele Identifier: CA308948312

Gene: ERCC2

Linked Data

• dbSNP Id: rs3038768
• gnomAD v2: 19-45855380-A-AGGGTGGG
• gnomAD v3: 19-45352122-A-AGGGTGGG
• gnomAD v4: 19-45352122-A-AGGGTGGG
• MyVariant Identifiers: chr19:g.45855380_45855381insGGGTGGG (hg19) ; chr19:g.45352122_45352123insGGGTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352124_45352130dup , CM000681.2:g.45352124_45352130dup	GRCh38
NC_000019.9:g.45855382_45855388dup , CM000681.1:g.45855382_45855388dup	GRCh37
NC_000019.8:g.50547222_50547228dup	NCBI36
NG_007067.2:g.23459_23465dup , LRG_461:g.23459_23465dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2270_2276dup	ENSP00000375808.4:p.Gln760ProfsTer?
ENST00000682414.1:c.2190+80_2190+86dup	ENSP00000507019.1:n.2190+80_2190+86dup
ENST00000682508.1:n.2219+80_2219+86dup
ENST00000684218.1:c.*1448+80_*1448+86dup	ENSP00000507804.1:n.*1448+80_*1448+86dup
ENST00000684264.1:n.1746+80_1746+86dup
ENST00000684407.1:c.2067+80_2067+86dup	ENSP00000507775.1:n.2067+80_2067+86dup
ENST00000684458.1:c.*676+80_*676+86dup	ENSP00000508260.1:n.*676+80_*676+86dup
ENST00000684468.1:n.1902+80_1902+86dup
ENST00000391945.10:c.2190+80_2190+86dup MANE Select	ENSP00000375809.4:n.2190+80_2190+86dup
ENST00000646507.1:n.2287+80_2287+86dup
ENST00000391942.6:n.1361+80_1361+86dup
ENST00000391944.7:c.1956+80_1956+86dup	ENSP00000375808.3:n.1956+80_1956+86dup
ENST00000391945.8:c.2190+80_2190+86dup	ENSP00000375809.3:n.2190+80_2190+86dup
ENST00000588652.5:n.2278+80_2278+86dup
NM_000400.3:c.2190+80_2190+86dup , LRG_461t1:c.2190+80_2190+86dup	NP_000391.1:n.2190+80_2190+86dup
XM_011526611.1:c.2112+80_2112+86dup	XP_011524913.1:n.2112+80_2112+86dup
XM_011526611.2:c.2112+80_2112+86dup	XP_011524913.1:n.2112+80_2112+86dup
XM_017026467.1:c.2067+80_2067+86dup	XP_016881956.1:n.2067+80_2067+86dup
XR_001753633.2:n.2237+80_2237+86dup
XR_001753634.2:n.2173+80_2173+86dup
NM_000400.4:c.2190+80_2190+86dup MANE Select	NP_000391.1:n.2190+80_2190+86dup