Canonical Allele Identifier: CA633480650

Gene: ERCC2

Linked Data

• dbSNP Id: rs1430013949
• gnomAD v2: 19-45867262-G-GCAGCACGGGGTTGGC
• gnomAD v4: 19-45364004-G-GCAGCACGGGGTTGGC
• MyVariant Identifiers: chr19:g.45867262_45867263insCAGCACGGGGTTGGC (hg19) ; chr19:g.45364004_45364005insCAGCACGGGGTTGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364008_45364022dup , CM000681.2:g.45364008_45364022dup	GRCh38
NC_000019.9:g.45867266_45867280dup , CM000681.1:g.45867266_45867280dup	GRCh37
NC_000019.8:g.50559106_50559120dup	NCBI36
NG_007067.2:g.11569_11583dup , LRG_461:g.11569_11583dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.916_930dup	ENSP00000375808.4:p.Leu310_Pro311insAlaAs...
ENST00000682414.1:c.916_930dup	ENSP00000507019.1:p.Leu310_Pro311insAlaAs...
ENST00000682508.1:n.945_959dup
ENST00000684218.1:c.*174_*188dup	ENSP00000507804.1:n.*174_*188dup
ENST00000684407.1:c.793_807dup	ENSP00000507775.1:p.Leu269_Pro270insAlaAs...
ENST00000684458.1:c.916_930dup	ENSP00000508260.1:p.Leu310_Pro311insAlaAs...
ENST00000391945.10:c.916_930dup MANE Select	ENSP00000375809.4:p.Leu310_Pro311insAlaAs...
ENST00000586131.6:c.844_858dup	ENSP00000464887.1:p.Leu286_Pro287insAlaAs...
ENST00000587376.6:c.39_53dup
ENST00000646507.1:n.1013_1027dup
ENST00000391941.6:c.844_858dup	ENSP00000375805.2:p.Leu286_Pro287insAlaAs...
ENST00000391944.7:c.682_696dup	ENSP00000375808.3:p.Leu232_Pro233insAlaAs...
ENST00000391945.8:c.916_930dup	ENSP00000375809.3:p.Leu310_Pro311insAlaAs...
ENST00000485403.6:c.844_858dup	ENSP00000431229.2:p.Leu286_Pro287insAlaAs...
ENST00000586131.5:c.844_858dup	ENSP00000464887.1:p.Leu286_Pro287insAlaAs...
ENST00000587376.5:c.39_53dup
NM_000400.3:c.916_930dup , LRG_461t1:c.916_930dup	NP_000391.1:p.Leu310_Pro311insAlaAsnProVa...
NM_001130867.1:c.844_858dup	NP_001124339.1:p.Leu286_Pro287insAlaAsnPr...
XM_011526611.1:c.838_852dup	XP_011524913.1:p.Leu284_Pro285insAlaAsnPr...
XR_935763.1:n.963_977dup
XM_011526611.2:c.838_852dup	XP_011524913.1:p.Leu284_Pro285insAlaAsnPr...
XM_017026467.1:c.793_807dup	XP_016881956.1:p.Leu269_Pro270insAlaAsnPr...
XR_001753633.2:n.963_977dup
XR_001753634.2:n.963_977dup
NM_000400.4:c.916_930dup MANE Select	NP_000391.1:p.Leu310_Pro311insAlaAsnProVa...
NM_001130867.2:c.844_858dup	NP_001124339.1:p.Leu286_Pro287insAlaAsnPr...