Canonical Allele Identifier: CA914331845

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2088635
• ClinVar RCV Id: RCV003018151
• dbSNP Id: rs1568531591
• gnomAD v2: 19-45855748-AC-A
• gnomAD v3: 19-45352490-AC-A
• gnomAD v4: 19-45352490-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352494del , CM000681.2:g.45352494del	GRCh38
NC_000019.9:g.45855752del , CM000681.1:g.45855752del	GRCh37
NC_000019.8:g.50547592del	NCBI36
NG_007067.2:g.23097del , LRG_461:g.23097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2046+15del	ENSP00000375808.4:n.2046+15del
ENST00000682414.1:c.2046+15del	ENSP00000507019.1:n.2046+15del
ENST00000682508.1:n.2075+15del
ENST00000684218.1:c.*1304+15del	ENSP00000507804.1:n.*1304+15del
ENST00000684264.1:n.1602+15del
ENST00000684407.1:c.1923+15del	ENSP00000507775.1:n.1923+15del
ENST00000684458.1:c.*532+15del	ENSP00000508260.1:n.*532+15del
ENST00000684468.1:n.1758+15del
ENST00000391945.10:c.2046+15del MANE Select	ENSP00000375809.4:n.2046+15del
ENST00000646507.1:n.2143+15del
ENST00000391941.6:c.1974+15del	ENSP00000375805.2:n.1974+15del
ENST00000391942.6:n.1217+15del
ENST00000391944.7:c.1812+15del	ENSP00000375808.3:n.1812+15del
ENST00000391945.8:c.2046+15del	ENSP00000375809.3:n.2046+15del
ENST00000588652.5:n.2134+15del
NM_000400.3:c.2046+15del , LRG_461t1:c.2046+15del	NP_000391.1:n.2046+15del
XM_011526611.1:c.1968+15del	XP_011524913.1:n.1968+15del
XM_011526611.2:c.1968+15del	XP_011524913.1:n.1968+15del
XM_017026467.1:c.1923+15del	XP_016881956.1:n.1923+15del
XR_001753633.2:n.2093+15del
XR_001753634.2:n.2029+15del
NM_000400.4:c.2046+15del MANE Select	NP_000391.1:n.2046+15del