Canonical Allele Identifier: CA9513568

Gene: ERCC2

Linked Data

• dbSNP Id: rs1555777979
• ExAC: 19:45867217 G / GA
• gnomAD v2: 19-45867217-G-GA
• gnomAD v3: 19-45363959-G-GA
• gnomAD v4: 19-45363959-G-GA
• MyVariant Identifiers: chr19:g.45867217_45867218insA (hg19) ; chr19:g.45363959_45363960insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363959_45363960insA , CM000681.2:g.45363959_45363960insA	GRCh38
NC_000019.9:g.45867217_45867218insA , CM000681.1:g.45867217_45867218insA	GRCh37
NC_000019.8:g.50559057_50559058insA	NCBI36
NG_007067.2:g.11628_11629insT , LRG_461:g.11628_11629insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.949+26_949+27insT	ENSP00000375808.4:n.949+26_949+27insT
ENST00000682414.1:c.949+26_949+27insT	ENSP00000507019.1:n.949+26_949+27insT
ENST00000682508.1:n.978+26_978+27insT
ENST00000684218.1:c.*207+26_*207+27insT	ENSP00000507804.1:n.*207+26_*207+27insT
ENST00000684407.1:c.826+26_826+27insT	ENSP00000507775.1:n.826+26_826+27insT
ENST00000684458.1:c.949+26_949+27insT	ENSP00000508260.1:n.949+26_949+27insT
ENST00000391945.10:c.949+26_949+27insT MANE Select	ENSP00000375809.4:n.949+26_949+27insT
ENST00000587376.6:c.72+26_72+27insT
ENST00000646507.1:n.1046+26_1046+27insT
ENST00000391941.6:c.877+26_877+27insT	ENSP00000375805.2:n.877+26_877+27insT
ENST00000391944.7:c.715+26_715+27insT	ENSP00000375808.3:n.715+26_715+27insT
ENST00000391945.8:c.949+26_949+27insT	ENSP00000375809.3:n.949+26_949+27insT
ENST00000485403.6:c.877+26_877+27insT	ENSP00000431229.2:n.877+26_877+27insT
ENST00000587376.5:c.72+26_72+27insT
NM_000400.3:c.949+26_949+27insT , LRG_461t1:c.949+26_949+27insT	NP_000391.1:n.949+26_949+27insT
NM_001130867.1:c.877+26_877+27insT	NP_001124339.1:n.877+26_877+27insT
XM_011526611.1:c.871+26_871+27insT	XP_011524913.1:n.871+26_871+27insT
XR_935763.1:n.996+26_996+27insT
XM_011526611.2:c.871+26_871+27insT	XP_011524913.1:n.871+26_871+27insT
XM_017026467.1:c.826+26_826+27insT	XP_016881956.1:n.826+26_826+27insT
XR_001753633.2:n.996+26_996+27insT
XR_001753634.2:n.996+26_996+27insT
NM_000400.4:c.949+26_949+27insT MANE Select	NP_000391.1:n.949+26_949+27insT
NM_001130867.2:c.877+26_877+27insT	NP_001124339.1:n.877+26_877+27insT