Canonical Allele Identifier: CA9512966

Gene: ERCC2

Linked Data

• dbSNP Id: rs762724929
• ExAC: 19:45855867 TCA / T
• gnomAD v2: 19-45855867-TCA-T
• gnomAD v3: 19-45352609-TCA-T
• gnomAD v4: 19-45352609-TCA-T
• MyVariant Identifiers: chr19:g.45855868_45855869del (hg19) ; chr19:g.45352610_45352611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352611_45352612del , CM000681.2:g.45352611_45352612del	GRCh38
NC_000019.9:g.45855869_45855870del , CM000681.1:g.45855869_45855870del	GRCh37
NC_000019.8:g.50547709_50547710del	NCBI36
NG_007067.2:g.22977_22978del , LRG_461:g.22977_22978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1941_1942del	ENSP00000375808.4:p.Asn649Ter
ENST00000682414.1:c.1941_1942del	ENSP00000507019.1:p.Asn649Ter
ENST00000682508.1:n.1970_1971del
ENST00000684218.1:c.*1199_*1200del	ENSP00000507804.1:n.*1199_*1200del
ENST00000684264.1:n.1497_1498del
ENST00000684407.1:c.1818_1819del	ENSP00000507775.1:p.Asn608Ter
ENST00000684458.1:c.*427_*428del	ENSP00000508260.1:n.*427_*428del
ENST00000684468.1:n.1653_1654del
ENST00000391945.10:c.1941_1942del MANE Select	ENSP00000375809.4:p.Asn649Ter
ENST00000646507.1:n.2038_2039del
ENST00000391941.6:c.1869_1870del	ENSP00000375805.2:p.Asn625Ter
ENST00000391942.6:n.1112_1113del
ENST00000391944.7:c.1707_1708del	ENSP00000375808.3:p.Asn571Ter
ENST00000391945.8:c.1941_1942del	ENSP00000375809.3:p.Asn649Ter
ENST00000588652.5:n.2029_2030del
NM_000400.3:c.1941_1942del , LRG_461t1:c.1941_1942del	NP_000391.1:p.Asn649Ter
XM_011526611.1:c.1863_1864del	XP_011524913.1:p.Asn623Ter
XM_011526611.2:c.1863_1864del	XP_011524913.1:p.Asn623Ter
XM_017026467.1:c.1818_1819del	XP_016881956.1:p.Asn608Ter
XR_001753633.2:n.1988_1989del
XR_001753634.2:n.1924_1925del
NM_000400.4:c.1941_1942del MANE Select	NP_000391.1:p.Asn649Ter