Canonical Allele Identifier: CA633480649

Gene: ERCC2

Linked Data

• dbSNP Id: rs1206071934
• gnomAD v2: 19-45867245-C-CGGG
• gnomAD v3: 19-45363987-C-CGGG
• gnomAD v4: 19-45363987-C-CGGG
• MyVariant Identifiers: chr19:g.45867245_45867246insGGG (hg19) ; chr19:g.45363987_45363988insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363987_45363988insGGG , CM000681.2:g.45363987_45363988insGGG	GRCh38
NC_000019.9:g.45867245_45867246insGGG , CM000681.1:g.45867245_45867246insGGG	GRCh37
NC_000019.8:g.50559085_50559086insGGG	NCBI36
NG_007067.2:g.11600_11601insCCC , LRG_461:g.11600_11601insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.947_948insCCC	ENSP00000375808.4:p.Gln316delinsHisPro
ENST00000682414.1:c.947_948insCCC	ENSP00000507019.1:p.Gln316delinsHisPro
ENST00000682508.1:n.976_977insCCC
ENST00000684218.1:c.*205_*206insCCC	ENSP00000507804.1:n.*205_*206insCCC
ENST00000684407.1:c.824_825insCCC	ENSP00000507775.1:p.Gln275delinsHisPro
ENST00000684458.1:c.947_948insCCC	ENSP00000508260.1:p.Gln316delinsHisPro
ENST00000391945.10:c.947_948insCCC MANE Select	ENSP00000375809.4:p.Gln316delinsHisPro
ENST00000586131.6:c.875_876insCCC	ENSP00000464887.1:p.Gln292delinsHisPro
ENST00000587376.6:c.70_71insCCC
ENST00000646507.1:n.1044_1045insCCC
ENST00000391941.6:c.875_876insCCC	ENSP00000375805.2:p.Gln292delinsHisPro
ENST00000391944.7:c.713_714insCCC	ENSP00000375808.3:p.Gln238delinsHisPro
ENST00000391945.8:c.947_948insCCC	ENSP00000375809.3:p.Gln316delinsHisPro
ENST00000485403.6:c.875_876insCCC	ENSP00000431229.2:p.Gln292delinsHisPro
ENST00000586131.5:c.875_876insCCC	ENSP00000464887.1:p.Gln292delinsHisPro
ENST00000587376.5:c.70_71insCCC
NM_000400.3:c.947_948insCCC , LRG_461t1:c.947_948insCCC	NP_000391.1:p.Gln316delinsHisPro
NM_001130867.1:c.875_876insCCC	NP_001124339.1:p.Gln292delinsHisPro
XM_011526611.1:c.869_870insCCC	XP_011524913.1:p.Gln290delinsHisPro
XR_935763.1:n.994_995insCCC
XM_011526611.2:c.869_870insCCC	XP_011524913.1:p.Gln290delinsHisPro
XM_017026467.1:c.824_825insCCC	XP_016881956.1:p.Gln275delinsHisPro
XR_001753633.2:n.994_995insCCC
XR_001753634.2:n.994_995insCCC
NM_000400.4:c.947_948insCCC MANE Select	NP_000391.1:p.Gln316delinsHisPro
NM_001130867.2:c.875_876insCCC	NP_001124339.1:p.Gln292delinsHisPro