Canonical Allele Identifier: CA2338395652

Gene: ERCC2

Linked Data

• dbSNP Id: rs1972322438
• gnomAD v4: 19-45363957-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363957_45363958insG , CM000681.2:g.45363957_45363958insG	GRCh38
NC_000019.9:g.45867215_45867216insG , CM000681.1:g.45867215_45867216insG	GRCh37
NC_000019.8:g.50559055_50559056insG	NCBI36
NG_007067.2:g.11630_11631insC , LRG_461:g.11630_11631insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.949+28_949+29insC	ENSP00000375808.4:n.949+28_949+29insC
ENST00000682414.1:c.949+28_949+29insC	ENSP00000507019.1:n.949+28_949+29insC
ENST00000682508.1:n.978+28_978+29insC
ENST00000684218.1:c.*207+28_*207+29insC	ENSP00000507804.1:n.*207+28_*207+29insC
ENST00000684407.1:c.826+28_826+29insC	ENSP00000507775.1:n.826+28_826+29insC
ENST00000684458.1:c.949+28_949+29insC	ENSP00000508260.1:n.949+28_949+29insC
ENST00000391945.10:c.949+28_949+29insC MANE Select	ENSP00000375809.4:n.949+28_949+29insC
ENST00000587376.6:c.72+28_72+29insC
ENST00000646507.1:n.1046+28_1046+29insC
ENST00000391941.6:c.877+28_877+29insC	ENSP00000375805.2:n.877+28_877+29insC
ENST00000391944.7:c.715+28_715+29insC	ENSP00000375808.3:n.715+28_715+29insC
ENST00000391945.8:c.949+28_949+29insC	ENSP00000375809.3:n.949+28_949+29insC
ENST00000485403.6:c.877+28_877+29insC	ENSP00000431229.2:n.877+28_877+29insC
ENST00000587376.5:c.72+28_72+29insC
NM_000400.3:c.949+28_949+29insC , LRG_461t1:c.949+28_949+29insC	NP_000391.1:n.949+28_949+29insC
NM_001130867.1:c.877+28_877+29insC	NP_001124339.1:n.877+28_877+29insC
XM_011526611.1:c.871+28_871+29insC	XP_011524913.1:n.871+28_871+29insC
XR_935763.1:n.996+28_996+29insC
XM_011526611.2:c.871+28_871+29insC	XP_011524913.1:n.871+28_871+29insC
XM_017026467.1:c.826+28_826+29insC	XP_016881956.1:n.826+28_826+29insC
XR_001753633.2:n.996+28_996+29insC
XR_001753634.2:n.996+28_996+29insC
NM_000400.4:c.949+28_949+29insC MANE Select	NP_000391.1:n.949+28_949+29insC
NM_001130867.2:c.877+28_877+29insC	NP_001124339.1:n.877+28_877+29insC