Canonical Allele Identifier: CA9512948

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2773219
• ClinVar RCV Id: RCV003577046
• dbSNP Id: rs769795873
• ExAC: 19:45855824 CTG / C
• gnomAD v2: 19-45855824-CTG-C
• gnomAD v4: 19-45352566-CTG-C
• MyVariant Identifiers: chr19:g.45855825_45855826del (hg19) ; chr19:g.45352567_45352568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352567_45352568del , CM000681.2:g.45352567_45352568del	GRCh38
NC_000019.9:g.45855825_45855826del , CM000681.1:g.45855825_45855826del	GRCh37
NC_000019.8:g.50547665_50547666del	NCBI36
NG_007067.2:g.23020_23021del , LRG_461:g.23020_23021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1984_1985del	ENSP00000375808.4:p.Gln662ValfsTer?
ENST00000682414.1:c.1984_1985del	ENSP00000507019.1:p.Gln662ValfsTer?
ENST00000682508.1:n.2013_2014del
ENST00000684218.1:c.*1242_*1243del	ENSP00000507804.1:n.*1242_*1243del
ENST00000684264.1:n.1540_1541del
ENST00000684407.1:c.1861_1862del	ENSP00000507775.1:p.Gln621ValfsTer?
ENST00000684458.1:c.*470_*471del	ENSP00000508260.1:n.*470_*471del
ENST00000684468.1:n.1696_1697del
ENST00000391945.10:c.1984_1985del MANE Select	ENSP00000375809.4:p.Gln662ValfsTer?
ENST00000646507.1:n.2081_2082del
ENST00000391941.6:c.1912_1913del	ENSP00000375805.2:p.Gln638ValfsTer?
ENST00000391942.6:n.1155_1156del
ENST00000391944.7:c.1750_1751del	ENSP00000375808.3:p.Gln584ValfsTer?
ENST00000391945.8:c.1984_1985del	ENSP00000375809.3:p.Gln662ValfsTer?
ENST00000588652.5:n.2072_2073del
NM_000400.3:c.1984_1985del , LRG_461t1:c.1984_1985del	NP_000391.1:p.Gln662ValfsTer?
XM_011526611.1:c.1906_1907del	XP_011524913.1:p.Gln636ValfsTer?
XM_011526611.2:c.1906_1907del	XP_011524913.1:p.Gln636ValfsTer?
XM_017026467.1:c.1861_1862del	XP_016881956.1:p.Gln621ValfsTer?
XR_001753633.2:n.2031_2032del
XR_001753634.2:n.1967_1968del
NM_000400.4:c.1984_1985del MANE Select	NP_000391.1:p.Gln662ValfsTer?