Canonical Allele Identifier: CA633479936

Gene: ERCC2

Linked Data

• dbSNP Id: rs1274403477
• gnomAD v2: 19-45855847-CGAAGGTAA-C
• gnomAD v4: 19-45352589-CGAAGGTAA-C
• MyVariant Identifiers: chr19:g.45855848_45855855del (hg19) ; chr19:g.45352590_45352597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352593_45352600del , CM000681.2:g.45352593_45352600del	GRCh38
NC_000019.9:g.45855851_45855858del , CM000681.1:g.45855851_45855858del	GRCh37
NC_000019.8:g.50547691_50547698del	NCBI36
NG_007067.2:g.22991_22998del , LRG_461:g.22991_22998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1955_1962del	ENSP00000375808.4:p.Leu652ArgfsTer?
ENST00000682414.1:c.1955_1962del	ENSP00000507019.1:p.Leu652ArgfsTer?
ENST00000682508.1:n.1984_1991del
ENST00000684218.1:c.*1213_*1220del	ENSP00000507804.1:n.*1213_*1220del
ENST00000684264.1:n.1511_1518del
ENST00000684407.1:c.1832_1839del	ENSP00000507775.1:p.Leu611ArgfsTer?
ENST00000684458.1:c.*441_*448del	ENSP00000508260.1:n.*441_*448del
ENST00000684468.1:n.1667_1674del
ENST00000391945.10:c.1955_1962del MANE Select	ENSP00000375809.4:p.Leu652ArgfsTer?
ENST00000646507.1:n.2052_2059del
ENST00000391941.6:c.1883_1890del	ENSP00000375805.2:p.Leu628ArgfsTer?
ENST00000391942.6:n.1126_1133del
ENST00000391944.7:c.1721_1728del	ENSP00000375808.3:p.Leu574ArgfsTer?
ENST00000391945.8:c.1955_1962del	ENSP00000375809.3:p.Leu652ArgfsTer?
ENST00000588652.5:n.2043_2050del
NM_000400.3:c.1955_1962del , LRG_461t1:c.1955_1962del	NP_000391.1:p.Leu652ArgfsTer?
XM_011526611.1:c.1877_1884del	XP_011524913.1:p.Leu626ArgfsTer?
XM_011526611.2:c.1877_1884del	XP_011524913.1:p.Leu626ArgfsTer?
XM_017026467.1:c.1832_1839del	XP_016881956.1:p.Leu611ArgfsTer?
XR_001753633.2:n.2002_2009del
XR_001753634.2:n.1938_1945del
NM_000400.4:c.1955_1962del MANE Select	NP_000391.1:p.Leu652ArgfsTer?