Canonical Allele Identifier: CA633480643

Gene: ERCC2

Linked Data

• gnomAD v2: 19-45867226-C-CG
• gnomAD v4: 19-45363968-C-CG
• MyVariant Identifiers: chr19:g.45867226_45867227insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363974dup , CM000681.2:g.45363974dup	GRCh38
NC_000019.9:g.45867232dup , CM000681.1:g.45867232dup	GRCh37
NC_000019.8:g.50559072dup	NCBI36
NG_007067.2:g.11619dup , LRG_461:g.11619dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.949+17dup	ENSP00000375808.4:n.949+17dup
ENST00000682414.1:c.949+17dup	ENSP00000507019.1:n.949+17dup
ENST00000682508.1:n.978+17dup
ENST00000684218.1:c.*207+17dup	ENSP00000507804.1:n.*207+17dup
ENST00000684407.1:c.826+17dup	ENSP00000507775.1:n.826+17dup
ENST00000684458.1:c.949+17dup	ENSP00000508260.1:n.949+17dup
ENST00000391945.10:c.949+17dup MANE Select	ENSP00000375809.4:n.949+17dup
ENST00000587376.6:c.72+17dup
ENST00000646507.1:n.1046+17dup
ENST00000391941.6:c.877+17dup	ENSP00000375805.2:n.877+17dup
ENST00000391944.7:c.715+17dup	ENSP00000375808.3:n.715+17dup
ENST00000391945.8:c.949+17dup	ENSP00000375809.3:n.949+17dup
ENST00000485403.6:c.877+17dup	ENSP00000431229.2:n.877+17dup
ENST00000587376.5:c.72+17dup
NM_000400.3:c.949+17dup , LRG_461t1:c.949+17dup	NP_000391.1:n.949+17dup
NM_001130867.1:c.877+17dup	NP_001124339.1:n.877+17dup
XM_011526611.1:c.871+17dup	XP_011524913.1:n.871+17dup
XR_935763.1:n.996+17dup
XM_011526611.2:c.871+17dup	XP_011524913.1:n.871+17dup
XM_017026467.1:c.826+17dup	XP_016881956.1:n.826+17dup
XR_001753633.2:n.996+17dup
XR_001753634.2:n.996+17dup
NM_000400.4:c.949+17dup MANE Select	NP_000391.1:n.949+17dup
NM_001130867.2:c.877+17dup	NP_001124339.1:n.877+17dup