Canonical Allele Identifier: CA162980

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 135523
• ClinVar RCV Id: RCV000122383 ; RCV000913781 ; RCV002514657 ; RCV004530044 ; RCV002256081
• dbSNP Id: rs369538318
• ExAC: 19:45864905 C / T
• gnomAD v2: 19-45864905-C-T
• gnomAD v3: 19-45361647-C-T
• gnomAD v4: 19-45361647-C-T
• MyVariant Identifiers: chr19:g.45864905C>T (hg19) ; chr19:g.45361647C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45361647C>T , CM000681.2:g.45361647C>T	GRCh38
NC_000019.9:g.45864905C>T , CM000681.1:g.45864905C>T	GRCh37
NC_000019.8:g.50556745C>T	NCBI36
NG_007067.2:g.13941G>A , LRG_461:g.13941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1119-5G>A	ENSP00000375808.4:n.1119-5G>A
ENST00000682414.1:c.1119-5G>A	ENSP00000507019.1:n.1119-5G>A
ENST00000682508.1:n.1148-5G>A
ENST00000684218.1:c.*377-5G>A	ENSP00000507804.1:n.*377-5G>A
ENST00000684407.1:c.996-5G>A	ENSP00000507775.1:n.996-5G>A
ENST00000684458.1:c.1119-5G>A	ENSP00000508260.1:n.1119-5G>A
ENST00000391945.10:c.1119-5G>A MANE Select	ENSP00000375809.4:n.1119-5G>A
ENST00000587376.6:c.242-5G>A
ENST00000646507.1:n.1216-5G>A
ENST00000391941.6:c.1047-5G>A	ENSP00000375805.2:n.1047-5G>A
ENST00000391942.6:n.285G>A
ENST00000391944.7:c.885-5G>A	ENSP00000375808.3:n.885-5G>A
ENST00000391945.8:c.1119-5G>A	ENSP00000375809.3:n.1119-5G>A
ENST00000485403.6:c.1047-5G>A	ENSP00000431229.2:n.1047-5G>A
ENST00000587376.5:c.242-5G>A
NM_000400.3:c.1119-5G>A , LRG_461t1:c.1119-5G>A	NP_000391.1:n.1119-5G>A
NM_001130867.1:c.1047-5G>A	NP_001124339.1:n.1047-5G>A
XM_011526611.1:c.1041-5G>A	XP_011524913.1:n.1041-5G>A
XR_935763.1:n.1166-5G>A
XM_011526611.2:c.1041-5G>A	XP_011524913.1:n.1041-5G>A
XM_017026467.1:c.996-5G>A	XP_016881956.1:n.996-5G>A
XR_001753633.2:n.1166-5G>A
XR_001753634.2:n.1166-5G>A
NM_000400.4:c.1119-5G>A MANE Select	NP_000391.1:n.1119-5G>A
NM_001130867.2:c.1047-5G>A	NP_001124339.1:n.1047-5G>A